LADA MODY
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Questions and Answers

What characterizes maturity-onset diabetes of the young (MODY)?

  • Involves single gene disorders affecting pancreatic function (correct)
  • Is always associated with autoantibodies
  • Age of onset typically exceeds 30 years
  • Requires insulin for management

    • Which statement accurately reflects gestational diabetes mellitus (GDM)?

  • It can occur in women with a prior diagnosis of diabetes before pregnancy.
  • It is characterized by an immediate risk of ketoacidosis.
  • It is diagnosed after the first trimester without prior evidence of diabetes. (correct)
  • It requires insulin dependence from the outset.

    • Which mutation is most commonly associated with MODY?

  • Mutations in the insulin receptor gene
  • Mutations linked to autoimmune responses
  • Mutations in the glucokinase (GCK) and HNF genes (correct)
  • Mutations in mitochondrial DNA

    • What is a distinguishing feature of latent autoimmune diabetes in adults (LADA)?

    <p>Initial insulin dependence is not required.</p> Signup and view all the answers

    What does the GCK mutation in MODY typically result in?

    <p>Mild, asymptomatic fasting hyperglycemia</p> Signup and view all the answers

    Which type of diabetes is characterized by the development of autoantibodies in older adults?

    <p>Latent autoimmune diabetes in adults (LADA)</p> Signup and view all the answers

    How is maturity-onset diabetes of the young (MODY) inherited?

    <p>Autosomal dominant inheritance</p> Signup and view all the answers

    Which complication is most commonly associated with HNF mutations in MODY?

    <p>Microvascular complications due to pancreatic dysfunction</p> Signup and view all the answers

    What should not be measured if a patient has received insulin therapy for ≥2 weeks?

    <p>Insulin antibodies</p> Signup and view all the answers

    What is the most effective treatment for patients diagnosed with LADA?

    <p>Insulin replacement therapy</p> Signup and view all the answers

    Which condition is associated with gestational diabetes?

    <p>All of the above</p> Signup and view all the answers

    What is a potential long-term consequence of gestational diabetes?

    <p>Increased risk of type 2 diabetes</p> Signup and view all the answers

    What complication can result from gestational diabetes during childbirth?

    <p>All of the above</p> Signup and view all the answers

    Which of the following is a risk associated with gestational diabetes?

    <p>Polyhydramnios</p> Signup and view all the answers

    What dietary recommendation is beneficial for obese patients with LADA?

    <p>Calorie restriction</p> Signup and view all the answers

    What percentage of pregnancies is affected by gestational diabetes each year?

    <p>4%</p> Signup and view all the answers

    During which weeks are pregnant women commonly screened for gestational diabetes?

    <p>24-28 weeks</p> Signup and view all the answers

    What is the definition of macrosomia in newborns?

    <p>Birth weight ≥4000 grams</p> Signup and view all the answers

    What is typically absent in MODY patients that differentiates them from patients with Type II diabetes?

    <p>Obesity</p> Signup and view all the answers

    What is a feature that makes MODY unlikely if present?

    <p>Presence of autoantibodies</p> Signup and view all the answers

    Which of the following can be a diagnostic criterion for identifying MODY?

    <p>Absence of autoantibodies</p> Signup and view all the answers

    What is true about patients diagnosed with LADA?

    <p>They can show islet antibodies despite initial insulin independence.</p> Signup and view all the answers

    In which demographic does LADA commonly occur?

    <p>In 10% of patients older than 35 years</p> Signup and view all the answers

    What is the function of measuring multiple autoantibodies in diabetes diagnosis?

    <p>It increases the likelihood of a positive result.</p> Signup and view all the answers

    Which of the following statements is correct regarding MODY diagnosis?

    <p>Serum autoantibodies must be measured before genetic testing.</p> Signup and view all the answers

    Why might LADA be misdiagnosed as Type II diabetes?

    <p>The age of onset can be similar to Type II diabetes.</p> Signup and view all the answers

    What factor alongside autoantibody testing should prompt considering LADA in young patients?

    <p>Thinness and poor response to sulfonylureas.</p> Signup and view all the answers

    Which of the following is a common characteristic of MODY patients?

    <p>They often exhibit significant fasting hyperglycemia.</p> Signup and view all the answers

    What is the intended starting insulin dose range for a pregnant patient with gestational diabetes based on their weight?

    <p>0.7-1.0 U/kg/d</p> Signup and view all the answers

    How should the total daily insulin requirement be divided for a patient when dosing in the morning?

    <p>2/3 NPH, 1/3 regular</p> Signup and view all the answers

    What is the preferred delivery method for a stable fetus in a gestational diabetes case?

    <p>Spontaneous labor and vaginal delivery</p> Signup and view all the answers

    What is the maximum recommended dosage for PRN administration in a patient with gestational diabetes?

    <p>20 mg/day</p> Signup and view all the answers

    During labor, what is the target range for maintaining maternal euglycemia?

    <p>80-120 mg/dl</p> Signup and view all the answers

    At what gestational age should a serial biophysical profile begin for patients with gestational diabetes?

    <p>32-34 weeks GA</p> Signup and view all the answers

    What is the purpose of conducting a detailed ultrasound study including an echocardiogram for a fetus?

    <p>To screen for fetal congenital heart malformations</p> Signup and view all the answers

    How often should plasma glucose levels be monitored postpartum in patients with gestational diabetes?

    <p>Four times a day</p> Signup and view all the answers

    What is the primary goal in managing gestational diabetes?

    <p>Achieving euglycemia</p> Signup and view all the answers

    Which hemoglobin A1c level indicates a diagnosis of diabetes during screening?

    <p>Hgb A1c &gt; 6.5</p> Signup and view all the answers

    What is the recommended dietary composition for a patient with gestational diabetes?

    <p>40% carbohydrates, 20% protein, 40% fat</p> Signup and view all the answers

    When is targeted screening for gestational diabetes typically performed?

    <p>At 24-28 weeks of gestation</p> Signup and view all the answers

    What is the standard initial treatment for patients not achieving adequate control with diet and exercise for gestational diabetes?

    <p>Insulin therapy</p> Signup and view all the answers

    Which test is used to confirm gestational diabetes if the initial screening is abnormal?

    <p>3-hour oral glucose tolerance test (OGTT)</p> Signup and view all the answers

    What is the acceptable fasting blood sugar target for a patient with gestational diabetes?

    <p>Less than 95 mg/dl</p> Signup and view all the answers

    Which of the following is a risk factor for gestational diabetes?

    <p>Family history of diabetes</p> Signup and view all the answers

    What is the function of the OGCT in the screening process for gestational diabetes?

    <p>Identify patients who may require further testing</p> Signup and view all the answers

    What kind of physical activity is recommended for managing gestational diabetes?

    <p>Light to moderate aerobic exercise</p> Signup and view all the answers

    What is the typical age of onset for maturity-onset diabetes of the young (MODY)?

    <p>Less than or equal to 25 years</p> Signup and view all the answers

    Which statement is true regarding the HNF mutation in MODY?

    <p>It can result in progressive pancreatic beta-cell dysfunction.</p> Signup and view all the answers

    What characterizes Latent Autoimmune Diabetes in Adults (LADA)?

    <p>Absence of autoantibodies at the initial diagnosis.</p> Signup and view all the answers

    Which of the following best describes gestational diabetes mellitus (GDM)?

    <p>Diabetes diagnosed in the second or third trimester.</p> Signup and view all the answers

    What is the primary characteristic of maturity-onset diabetes of the young (MODY)?

    <p>It is associated with a lack of autoantibodies.</p> Signup and view all the answers

    Which gene mutations are most commonly associated with maturity-onset diabetes of the young (MODY)?

    <p>GCK and HNF</p> Signup and view all the answers

    What is a potential long-term complication of HNF mutations in MODY?

    <p>Microvascular complications</p> Signup and view all the answers

    What is a common misconception regarding monogenic diabetes (MODY)?

    <p>It always requires insulin therapy.</p> Signup and view all the answers

    Which feature is unlikely to be present in patients with MODY?

    <p>Insulin resistance</p> Signup and view all the answers

    What role does genetic testing play in diagnosing MODY?

    <p>It provides optimal treatment strategies</p> Signup and view all the answers

    Which condition is most common among patients diagnosed with LADA?

    <p>Preserved insulin secretion initially</p> Signup and view all the answers

    Which autoantibody test is not typically measured in patients suspected of having LADA?

    <p>C-Peptide Levels</p> Signup and view all the answers

    What distinguishes MODY from Type II diabetes in adolescents?

    <p>Age of onset</p> Signup and view all the answers

    What percentage of LADA cases occurs in individuals older than 35 years?

    <p>10%</p> Signup and view all the answers

    Which statement is true regarding the progression of LADA?

    <p>Progression of beta-cell failure is typically slow</p> Signup and view all the answers

    Which feature is commonly involved in the diagnosis of LADA?

    <p>Presence of autoantibodies</p> Signup and view all the answers

    What should be measured before genetic testing for MODY?

    <p>Serum autoantibodies</p> Signup and view all the answers

    Why might patients with LADA be misdiagnosed as having Type II diabetes?

    <p>They may initially present without obesity</p> Signup and view all the answers

    What is a potential risk for mothers diagnosed with gestational diabetes?

    <p>Increased risk of gestational hypertension</p> Signup and view all the answers

    Which treatment is primarily used for managing latent autoimmune diabetes of adults (LADA) at diagnosis?

    <p>Insulin replacement therapy</p> Signup and view all the answers

    What defines a macrosomic infant?

    <p>Birth weight of 4000 grams or more</p> Signup and view all the answers

    What is a common complication of gestational diabetes for neonates?

    <p>Shoulder dystocia</p> Signup and view all the answers

    What screening method is typically used for detecting gestational diabetes?

    <p>Glucose challenge test</p> Signup and view all the answers

    Which of the following is NOT a long-term consequence of gestational diabetes?

    <p>Enhanced immune function</p> Signup and view all the answers

    How does maternal hormonal change during pregnancy typically affect insulin?

    <p>Decreases insulin sensitivity</p> Signup and view all the answers

    What lifestyle modification may benefit obese patients diagnosed with LADA?

    <p>Calorie restriction and physical activity</p> Signup and view all the answers

    What factor impacts the incidence of stillbirth in mothers with gestational diabetes?

    <p>Suboptimal glucose control</p> Signup and view all the answers

    Which condition is more commonly associated with gestational diabetes?

    <p>Intrauterine fetal growth retardation</p> Signup and view all the answers

    What is the maximum daily dose recommended for PRN insulin administration in patients with gestational diabetes?

    <p>20 mg/day</p> Signup and view all the answers

    How should the total daily insulin dose be divided for a pregnant patient receiving insulin therapy?

    <p>70% morning, 30% evening</p> Signup and view all the answers

    What is the primary method for glucose control during labor for patients with gestational diabetes?

    <p>Continuous IV infusion of regular insulin</p> Signup and view all the answers

    How frequently should a patient's plasma glucose levels be monitored postpartum if they had gestational diabetes?

    <p>Four times daily</p> Signup and view all the answers

    At what gestational age should weekly serial biophysical profiles begin for patients with gestational diabetes?

    <p>32-34 weeks</p> Signup and view all the answers

    Which of the following factors necessitates a Cesarean delivery in cases of gestational diabetes?

    <p>Fetal weight greater than 4500 g</p> Signup and view all the answers

    What is the recommended approach to monitoring fetal heart rate in patients with gestational diabetes during labor?

    <p>Continuous electronic fetal heart rate monitoring</p> Signup and view all the answers

    What initial insulin dosage is recommended for a pregnant patient weighing 165 pounds based on a starting dose of 0.7 U/kg/d?

    <p>50 U/day</p> Signup and view all the answers

    What hemoglobin A1c level indicates a need for management as diabetic during the initial prenatal visit?

    <p>≥6.5%</p> Signup and view all the answers

    Which of the following dietary guidelines is recommended for managing gestational diabetes?

    <p>Limit carbohydrates to no more than 40% of the diet.</p> Signup and view all the answers

    What is the primary goal for glucose levels in a patient managing gestational diabetes?

    <p>FBS &lt; 95 mg/dl, 1 hr PP glucose &lt; 140 mg/dl</p> Signup and view all the answers

    During the 3-hour OGTT, how many abnormal glucose values indicate a diagnosis of gestational diabetes?

    <p>2 abnormal values</p> Signup and view all the answers

    What type of testing is performed if the initial glucose challenge tests are abnormal?

    <p>A 3-hour OGTT</p> Signup and view all the answers

    Which of the following is considered a risk factor for gestational diabetes?

    <p>Pre-pregnancy BMI &gt; 30</p> Signup and view all the answers

    Which medication is the preferred treatment for patients with gestational diabetes not achieving adequate control with diet and exercise?

    <p>Insulin</p> Signup and view all the answers

    What is the role of exercise in managing gestational diabetes?

    <p>Prevent gestational weight gain</p> Signup and view all the answers

    At what gestational age is targeted screening for gestational diabetes typically performed?

    <p>24-28 weeks</p> Signup and view all the answers

    What fasting blood sugar level is considered acceptable for a patient diagnosed with gestational diabetes?

    <p>&lt; 95 mg/dl</p> Signup and view all the answers

    Which of the following correctly describes a characteristic of maturity onset diabetes of the young (MODY)?

    <p>It is associated with a lack of autoantibodies.</p> Signup and view all the answers

    What is the typical age of onset for gestational diabetes mellitus (GDM)?

    <p>2nd or 3rd trimester of pregnancy</p> Signup and view all the answers

    Which mutation commonly associated with MODY is known to cause stable fasting hyperglycemia?

    <p>GCK mutation</p> Signup and view all the answers

    What is a defining feature of Latent Autoimmune Diabetes in Adults (LADA)?

    <p>It involves initial insulin independence.</p> Signup and view all the answers

    In maturity onset diabetes of the young (MODY), what is true regarding its inheritance pattern?

    <p>It displays autosomal dominant inheritance.</p> Signup and view all the answers

    Which complication can arise from the HNF mutation in MODY?

    <p>Hyperglycemia associated with microvascular complications</p> Signup and view all the answers

    What timeframe is considered for the screening of gestational diabetes?

    <p>2nd or 3rd trimester only</p> Signup and view all the answers

    Which of the following statements about monogenic diabetes is correct?

    <p>It represents a small percentage of total diabetes cases.</p> Signup and view all the answers

    What is the maximum daily insulin dose for a patient with gestational diabetes based on the starting dose of 0.7 U/kg/d if the patient weighs 165 pounds?

    <p>52.5 U/day</p> Signup and view all the answers

    During labor, what is the recommended frequency for monitoring maternal glucose levels in patients with gestational diabetes?

    <p>Every hour</p> Signup and view all the answers

    What is the specific insulin composition for the evening dose in the regimen for a patient with gestational diabetes?

    <p>½ regular and ½ NPH</p> Signup and view all the answers

    Which insulin type is primarily administered as a continuous infusion during labor for managing glucose levels?

    <p>Regular insulin</p> Signup and view all the answers

    What screening test should be performed 6 weeks postpartum for patients with gestational diabetes?

    <p>2-hour Oral Glucose Tolerance Test (OGTT)</p> Signup and view all the answers

    What is the appropriate action for a cesarean delivery in patients with gestational diabetes?

    <p>Elective for large fetuses over 4500 g</p> Signup and view all the answers

    What monitoring method is recommended for fetal heart rate (FHR) in patients with gestational diabetes during labor?

    <p>Continuous electronic FHR monitoring</p> Signup and view all the answers

    After delivery, which specific change occurs in insulin requirements for patients with gestational diabetes?

    <p>They drop sharply</p> Signup and view all the answers

    What is the primary treatment for patients diagnosed with latent autoimmune diabetes in adults (LADA)?

    <p>Insulin replacement therapy</p> Signup and view all the answers

    Which condition is more prevalent in patients with gestational diabetes mellitus (GDM)?

    <p>Preeclampsia</p> Signup and view all the answers

    What should not be measured in a patient who has had insulin therapy for two weeks or more?

    <p>Insulin antibodies</p> Signup and view all the answers

    Which hemoglobin A1c level indicates inadequate control in managing gestational diabetes?

    <p>6.5%</p> Signup and view all the answers

    What is the definition of macrosomia in the context of gestational diabetes?

    <p>Fetal weight at or above the 90th percentile for gestational age</p> Signup and view all the answers

    What is the ideal fasting blood glucose level for a patient with gestational diabetes?

    <p>95 mg/dl</p> Signup and view all the answers

    Which complication is associated with gestational diabetes for the neonate?

    <p>Neonatal hypoglycemia</p> Signup and view all the answers

    Which of the following is NOT a recommended dietary composition for managing gestational diabetes?

    <p>50% fat</p> Signup and view all the answers

    What is the purpose of conducting a 3-hour OGTT in the screening process for gestational diabetes?

    <p>To confirm a diagnosis if the initial screening is abnormal</p> Signup and view all the answers

    Which long-term consequence is associated with gestational diabetes in mothers post-pregnancy?

    <p>Development of type 2 diabetes</p> Signup and view all the answers

    Which risk factor is NOT associated with the development of gestational diabetes?

    <p>Age &lt;18</p> Signup and view all the answers

    What is a key factor that differentiates LADA from Type II diabetes?

    <p>Presence of autoantibodies</p> Signup and view all the answers

    Which statement accurately describes the recommended exercise regimen for pregnant patients with gestational diabetes?

    <p>Mild to moderate aerobic exercises post-meal are recommended</p> Signup and view all the answers

    What is a significant risk factor associated with gestational diabetes during pregnancy?

    <p>Obesity</p> Signup and view all the answers

    What is the next step if a patient’s 1-hour serum glucose level is greater than 200 mg/dl during screening?

    <p>Immediately diagnose GDM</p> Signup and view all the answers

    Which of the following complications is linked to maternal obesity in the context of gestational diabetes?

    <p>Shoulder dystocia</p> Signup and view all the answers

    What effect do pregnancy hormones generally have on insulin sensitivity?

    <p>Decrease insulin sensitivity</p> Signup and view all the answers

    What is the maximum recommended dosage for Metformin in the management of gestational diabetes?

    <p>2 g daily</p> Signup and view all the answers

    Which type of insulin is considered the preferred treatment for managing gestational diabetes?

    <p>Combination of short and intermediate acting insulin</p> Signup and view all the answers

    At which gestational age is targeted screening for gestational diabetes typically performed?

    <p>24-28 weeks</p> Signup and view all the answers

    What is a characteristic feature of maturity-onset diabetes of the young (MODY)?

    <p>Strong family history of diabetes across two generations</p> Signup and view all the answers

    Which factor strongly indicates that a patient may have MODY rather than Type II diabetes?

    <p>Stable fasting hyperglycemia without obesity</p> Signup and view all the answers

    What is a key distinction between LADA and typical Type II diabetes?

    <p>Presence of autoantibodies at diagnosis</p> Signup and view all the answers

    Which test is essential prior to genetic testing for MODY?

    <p>Measurement of serum autoantibodies</p> Signup and view all the answers

    Which of the following statements accurately describes LADA?

    <p>It accounts for a substantial portion of diabetes in older adults.</p> Signup and view all the answers

    What best describes the insulin production pattern in patients with LADA?

    <p>Prolonged preservation of insulin secretion</p> Signup and view all the answers

    Which feature differentiates MODY from autoimmune forms of diabetes?

    <p>Presence of autoantibodies</p> Signup and view all the answers

    What testing strategy can improve the diagnostic process for diabetes-related autoantibodies?

    <p>Measuring multiple autoantibodies simultaneously</p> Signup and view all the answers

    Which of the following is a common complication that may arise from LADA if misdiagnosed?

    <p>Rapid progression to full insulin dependency</p> Signup and view all the answers

    Which condition should prompt consideration of LADA diagnosis in young patients?

    <p>Thin patient with poor response to sulfonylureas</p> Signup and view all the answers

    Study Notes

    Diabetes Mellitus

    • A group of metabolic diseases that are characterized by hyperglycemia
    • Gestational diabetes mellitus (GDM) is diagnosed during the second or third trimester of pregnancy in patients without prior evidence of diabetes
    • Maturity-onset diabetes of the young (MODY) is caused by genetic defects of pancreatic beta-cell function
    • Latent autoimmune diabetes in adults (LADA) is a slowly developing type 1 diabetes in older adults
    • The most common forms of MODY are caused by mutations in the GCK (glucokinase) and HNF (hepatocyte nuclear factor) genes.

    Monogenic Diabetes

    • MODY is a single gene disorder leading to genetic defects in the beta cell function within the pancreas
    • Usually, diabetes in MODY does not require insulin
    • Accounts for 2-5% of diabetes
    • Age of onset is usually less than 25 years old
    • There is a lack of autoantibodies
    • Autosomal dominant inheritance
    • MODY is usually mild, stable with fasting hyperglycemia
    • It is usually controlled by diet, but requires medication during pregnancy
    • It is usually not associated with obesity

    Latent Autoimmune Diabetes in Adults (LADA)

    • LADA is characterized by the presence of islet autoantibodies, slow progression of autoimmune beta-cell failure, and eventual progression to insulin dependence
    • Individuals with LADA initially do not require insulin, in contrast to those with Type 1 diabetes
    • Over time, beta-cell function deteriorates, requiring insulin replacement therapy
    • It may be mistaken for type 2 diabetes
    • Can occur in obese patients
    • Weight loss and physical activity is beneficial for patients.

    Gestational Diabetes

    • During pregnancy, hormones cause insulin resistance
    • Affects ~4% of pregnancies
    • Occurs in the 2nd or 3rd trimester
    • Patients should be screened between weeks 24-28
    • Goal of treatment is to achieve euglycemia

    Gestational Diabetes Implications

    • Risks extend beyond pregnancy and the neonatal period
    • Increased risk of developing type 2 diabetes
    • Increased risk if obese, high BMI, family history of diabetes, pre-pregnancy BMI > 30, older maternal age> 40

    Gestational Diabetes Complications

    • Large for gestational age (LGA) infant
    • Macrosomia (birth weight ≥4000 grams)
    • Increased risk of operative deliveries
    • Preeclampsia
    • Polyhydramnios
    • Stillbirth
    • Neonatal morbidity including hypoglycemia, hyperbilirubinemia, hypocalcemia, hypomagnesemia, polycythemia, respiratory distress, cardiomyopathy
    • Maternal infections
    • Maternal hypoglycemia, diabetic coma, ketoacidosis
    • Maternal cardiac, renal, ophthalmic, and peripheral vascular injuries

    Screening for Gestational Diabetes

    • Hemoglobin A1c should be acquired at the initial prenatal visit.
    • The screening for gestational diabetes should take place at weeks 24-28 via a 1 hour glucose tolerance test.
    • If the result is abnormal, a 3-hour OGTT should be performed

    Gestational Diabetes Management

    • Euglycemia is the goal of treatment
    • Diet: 30-35 kcal/kg/d, 3 small meals, 2 snacks, 40% carbohydrate, 20% protein, 40% fat
    • Exercise: Encourage mild to moderate aerobic exercise (walking) after meals
    • Glucose Monitoring: Fasting and 1-2 hours post prandial
    • Monitor glucose levels at least 4 times a day
    • Insulin is the medication of choice

    Gestational Diabetes Treatment

    • Insulin is the medication of choice.
    • Combination of short acting and intermediate acting insulin
    • Basal insulin (glargine and detemir) have not been studied extensively but appear safe
    • 2nd line or alternative treatments include Metformin or Glyburide

    Insulin Therapy in Gestational Diabetes

    • Starting insulin does: 0.7-1.0 U/kg/d (based on present pregnant weight)
    • Combination of intermediate and short acting insulin
    • 2/3 of the insulin dose given in the morning before breakfast
    • 1/3 of the total daily dose is given in the evening before dinner
    • Antepartum: Weekly serial biophysical profiles beginning at 32-34 weeks, delivery at term is preferred if fetal stability

    Diabetes Management in Pregnancy

    • Intrapartum: Glucose control, maternal glucose monitored every hour and kept between 80-120 mg/dl, continuous fetal heart rate monitoring is recommended
    • Postpartum: Monitor plasma glucose levels QID, treat elevated glucose levels with lispro or regular insulin, screen for type 2 diabetes 6 weeks postpartum

    Diabetes Mellitus

    • A group of metabolic diseases characterized by hyperglycemia

    Gestational Diabetes Mellitus (GDM)

    • Diagnosed in the 2nd or 3rd trimester of pregnancy without evidence of diabetes prior to pregnancy

    Maturity Onset Diabetes of the Young (MODY)

    • Genetic defects of pancreatic B cell function
    • Non-insulin requiring diabetes
    • Most common form of monogenic diabetes (2-5% of diabetes cases)
    • Age of onset ≤ 25 years with lack of autoantibodies
    • Autosomal dominant inheritance - multiple gene abnormalities on different chromosomes
    • 6 types of mutations: Mutations in GCK (glucokinase) & HNF (hepatocyte nuclear factor) genes are most common cause
      • GCK Mutation
        • Causes mild, asymptomatic stable fasting hyperglycemia
        • No treatment required, can be diet controlled, unless pregnant
      • HNF Mutation
        • Cause a progressive pancreatic beta-cell dysfunction and hyperglycemia that can cause microvascular complications
        • Can be controlled well with a sulfonylurea

    MODY Diagnosis

    • Genetic testing by direct sequencing of the gene
    • Genetic testing allows for:
      • Optimal treatment of patients
      • Identification of family members who are at risk
      • Identify those at risk for diabetes complications which vary with type

    Differentiating MODY from Type II DM

    • Age of onset ≤ 25 years
    • Strong Family History (2 generations)
    • Insulin Resistance is not a feature of MODY
    • Diabetes in the absence of obesity is suspicious for MODY, particularly in adolescents
    • Many may go undetected

    Latent Autoimmune Diabetes in Adults (LADA)

    • Slowly developing type I in older adults
    • Considered a slowly progressive variant of type I diabetes
    • Initially have no insulin-dependence & ketoacidosis
    • Over time B cells diminish & insulin-dependence develops

    LADA Diagnosis

    • Measure autoantibodies when the diagnosis of type 1 or type 2 diabetes is uncertain by clinical presentation:
      • Thin patient with poor response to initial therapy with sulfonylureas or metformin
      • Personal or family history of autoimmune disease
      • Overweight or obese children or adolescents presenting with apparent type 2 diabetes, who in actuality, may have an early presentation of type 1 diabetes

    LADA Treatment

    • Like that of DM I
    • Obese LADA pts benefit from calorie restriction & physical activity
    • Metformin thought to be useful in these patients
    • Insulin therapy is treatment of choice at diagnosis
    • Because of the slow progression of β-cell failure, patients with autoimmune diabetes of this type are candidates for immunomodulation

    Gestational Diabetes

    • Hormones in pregnancy contribute to insulin resistance
    • Diabetes developing in the second or third trimester of pregnancy in patients not previously diabetic
    • Pregnant women are screened between 24 & 28 weeks
    • ~4% of pregnancies affected each year

    Gestational Diabetes Implications

    • Pregnancy & Neonatal:
      • Large for gestational age (LGA) infant
        • Defined as fetal or neonatal weight at or above the 90th percentile for gestational age
        • Macrosomia - Defined as birth weight ≥4000 grams
      • Increased maternal & perinatal morbidity
      • Increased risk of operative delivery
        • Cesarean or instrumental vaginal
        • Adverse neonatal outcomes → shoulder dystocia & its associated complications: brachial plexus injury, fracture
      • Preeclampsia & gestational hypertension
        • Patients with GDM are at higher risk of developing preeclampsia & gestational hypertension
      • Polyhydramnios
        • More common in patients with GDM
      • Stillbirth
        • Patients with GDM & suboptimal glucose control appear to have an increased risk of stillbirth compared with the general obstetric population
    • Neonatal Morbidity
      • Increased risk of hypoglycemia, hyperbilirubinemia, hypocalcemia, hypomagnesemia, polycythemia, respiratory distress, &/or cardiomyopathy
      • Delayed pulmonary, hepatic, & neurologic organ maturity
      • Congenital defects (heart, neural tube, renal)
      • Abnormal fetal heart rate patterns
      • Intrauterine fetal growth retardation, & intrauterine fetal distress
    • Maternal
      • Maternal infections
      • Maternal hypoglycemia, diabetic coma, ketoacidosis
      • Maternal cardiac, renal, ophthalmic, & peripheral vascular injuries

    Long Term Consequences of Gestational Diabetes

    • Risks extend beyond the pregnancy & neonatal period
    • GDM is a strong marker for maternal development of type 2 diabetes, including diabetes-related vascular disease.
    • GDM increases the offspring's risk for developing obesity, impaired glucose tolerance, & diabetes.

    Risk Factors for Gestational Diabetes

    • Personal history of impaired glucose tolerance, Hgb A1c>5.7
    • Family hx of diabetes, especially first-degree relatives
    • Pre-pregnancy BMI >30, weight gain in early adulthood, between pregnancies, or between 18 & 24 weeks of pregnancy
    • Older maternal age >40

    Gestational Diabetes Screening

    • Obtain hemoglobin A1c as part of prenatal laboratory studies at the initial visit
      • Manage as diabetic if >6.5
    • Targeted screening at 24-28 weeks gestational age with oral 1 hour glucose tolerance test:
      • 50-gram 1-hour oral glucose challenge test (OGCT) without PO intake restriction
      • 1 hour serum glucose > 140 mg/dl = abnormal → 3-hour OGTT
      • 1 hour serum glucose > 200 mg/dl = GDM (3-hour OGTT not performed)

    Gestational Diabetes Management

    • Team approach:
      • Patient, obstetrician, MFM specialist, nutritionist
    • Goal = Euglycemia:
      • FBS < 95 mg/dl
      • 1 hr PP glucose < 140 mg/dl
      • 2 hr PP glucose < 120 mg/dl
    • Diet: 30-35 kcal/kg/d
      • 3 small to moderate sized meals with 2 snacks
      • Limit carbohydrates to no more than 40% of diet, with ensuring that ketosis does not develop
        • 40% carbohydrate, 20% protein, 40% fat with generous amount of fiber
    • Exercise:
      • Encourage mild to moderate aerobic exercise (walking) after meals
      • Prevent gestational weight gain
    • Glucose Monitoring: Fasting & 1-2 hours post prandial
      • At least a total of 4 times a day

    Gestational Diabetes Treatment

    • Medication: For patients not getting adequate control with diet and exercise
      • Insulin is the medication of choice:
        • Preferred = Combination of short acting (lispro or aspart) pre-meal & intermediate acting (NPH) insulin
        • Basal insulin (glargine & detemir) have not been studied extensively but appear safe
      • 2nd line/alternatives
        • Metformin: Initial 500 mg daily or bid, max 2-2.5 g daily in two divided doses
        • Glyburide 2.5-5 mg PO daily, increase 2.5 mg/wk.PRN to Max. 20 mg/day
        • Both drugs cross the placenta (in contrast to insulin)

    Insulin Therapy in Gestational Diabetes

    • Starting Insulin Dose 0.7-1.0 U/kg/d (based on present pregnant weight)
    • Combination of Intermediate & short acting insulin
      • 2/3 of the Insulin dose given in the morning before breakfast
        • Morning dose: 2/3 NPH, 1/3 regular
      • 1/3 total daily dose is given in the evening before dinner
        • ½ is regular
        • ½ is NPH

    Gestational Diabetes Management in Pregnancy

    • Antepartum:
      • Detailed ultrasonic study of fetus including echocardiogram to screen for fetal congenital heart malformations
      • Serial biophysical profile (BPP) weekly beginning at 32-34 wks GA
    • Delivery:
      • Spontaneous labor & vaginal delivery at term preferred if fetus stable
      • Cesarean delivery may be elected for large fetuses (>4500 g = 10 lbs)

    Gestational Diabetes Intrapartum

    • Glucose control:
      • Monitor maternal glucose levels every hour
      • Maintain maternal euglycemia during labor (80-120 mg/dl)
      • Continuous infusion (IV) or PRN SQ doses of regular insulin are given for ↑glucose
    • Fetal monitoring:
      • Continuous electronic FHR monitoring is recommended for all DM patients

    Gestational Diabetes Postpartum

    • After delivery of fetus & placenta insulin requirements drop sharply
    • Monitor plasma glucose levels QID (FBS & 1 hr postprandial)
    • Treat elevated glucose levels with lispro or regular insulin PRN
    • Screen for Type II DM 6 weeks postpartum with 2hr OGTT
    • GDM patients should be counseled on use of ADA diet
    • Estrogen containing OCPs are not recommended for DM with vascular disease

    Diabetes Mellitus

    • Characterized by hyperglycemia
    • Gestational Diabetes Mellitus (GDM): Diagnosed during 2nd or 3rd trimester of pregnancy, no prior evidence of diabetes
    • Maturity-onset Diabetes of the Young (MODY): Genetic defect of pancreatic B cell function
    • Latent Autoimmune Diabetes in Adults (LADA): Slowly developing type 1; initially no insulin-dependence, over time B cells diminish and insulin-dependence develops

    Diagnosing Diabetes

    • Four methods:
      • Fasting plasma glucose (FPG) ≥ 126 mg/dL
      • 2-hour plasma glucose ≥ 200 mg/dL during an oral glucose tolerance test
      • HbA1c ≥ 6.5%
      • Random plasma glucose ≥ 200 mg/dL in a patient with symptoms of hyperglycemia

    Monogenic Diabetes (MODY)

    • Single gene disorders leading to pancreatic B cell dysfunction
    • Non-insulin requiring diabetes
    • Most common form of monogenic diabetes
    • Age of onset ≤ 25 years with lack of autoantibodies
    • Autosomal dominant inheritance
    • Six types of mutations: Mutations in GCK (glucokinase) and HNF (hepatocyte nuclear factor) genes are most common causes
      • GCK mutation: Mild, asymptomatic stable fasting hyperglycemia, diet-controlled, no treatment required unless pregnant
      • HNF mutation: Progressive pancreatic beta-cell dysfunction and hyperglycemia, possible microvascular complications, controlled with sulfonylureas
    • Heterogeneous presentation
    • Patients exhibit mild, stable, fasting hyperglycemia
      • Typically no obesity
    • Strong family history of diabetes (2 generations)
    • Insulin independence
    • Lack of ketoacidosis when insulin is omitted
    • Absence of autoantibodies for pancreatic antigens
    • Evidence of endogenous insulin production
    • Insulin resistance is not a feature of MODY
    • Presence of autoantibodies makes MODY very unlikely
    • Before genetic testing, measure serum autoantibodies:
      • Islet Cell Cytoplasmic Autoantibodies (ICA)
      • Glutamic Acid Decarboxylase Autoantibodies (GADA)
      • Insulinoma-Associated-2 Autoantibodies (IA-2A)
      • Insulin Autoantibodies (IAA)
      • Zinc Transporter-8 Autoantibodies (ZnT8A)
    • Genetic testing will allow for:
      • Optimal treatment of patients
      • Identification of family members at risk
      • Identify those at risk for diabetes complications

    Differentiating MODY from Type II DM

    • MODY age of onset typically younger
    • Strong family history of diabetes with MODY
    • Insulin resistance is not a feature of MODY
    • Diabetes in the absence of obesity is suspicious for MODY, especially in adolescents

    Latent Autoimmune Diabetes in Adults (LADA)

    • Adult-onset diabetes with circulating autoantibodies against pancreatic beta cell antigens
    • Prolonged preservation of insulin secretion, but eventually progresses
    • Slowly developing Type 1 diabetes in older adults
    • Considered a slowly progressive variant of Type 1 diabetes
    • Accounts for a small fraction of patients with diabetes
    • Despite presence of islet antibodies at diagnosis of diabetes, the progression of autoimmune beta-cell failure is slow
      • No insulin initially required
      • Within 6 years beta cells function is severely impaired and may require insulin
    • LADA occurs in 10% of those older than 35 years and in 25% of those with the phenotypic appearance of DMII
    • Obesity does not exclude LADA
    • Obese DM II patients with islet antibodies show progressive beta-cell failure
    • Children may also experience LADA
    • Measure autoantibodies when the diagnosis of type 1 or type 2 diabetes is uncertain by clinical presentation:
      • Thin patient with poor response to initial sulfonylureas or metformin treatment
      • Personal or family history of autoimmune disease
      • Overweight or obese children or adolescents presenting with apparent type 2 diabetes may have an early presentation of Type 1 diabetes

    LADA Diagnosis

    • Five of the most common diabetes-related autoantibody tests include:
      • Islet Cell Cytoplasmic Autoantibodies (ICA)
      • Glutamic Acid Decarboxylase Autoantibodies (GADA)
      • Insulinoma-Associated-2 Autoantibodies (IA-2A)
      • Insulin Autoantibodies (IAA)
      • Zinc Transporter-8 Autoantibodies (ZnT8A)
    • Measuring more than one antibody will increase the likelihood of a positive value, but is costly
    • Insulin antibodies should not be measured if the patient has received insulin therapy for ≥2 weeks
    • If ≥1 antibodies present → patient should be presumed to have Type I diabetes
      • Treated with insulin replacement therapy
      • Patients respond poorly to diet and oral hypoglycemic drug therapy
    • Intensive insulin therapy in early stages prolongs beta cell function

    LADA Treatment

    • Like that of DM I
    • Obese LADA patients benefit from calorie restriction and physical activity
    • Metformin thought to be useful in these patients
    • Insulin therapy is the treatment of choice at diagnosis
    • Because of the slow progression of β-cell failure, patients with autoimmune diabetes of this type are candidates for immunomodulation

    Gestational Diabetes

    • Pregnancy hormones associated with insulin resistance
    • Diabetes developing in the 2nd or 3rd trimester of pregnancy in patients not previously diabetic
    • Screen pregnant women between 24 and 28 weeks
      • ~4% of pregnancies affected each year

    Gestational Diabetes Implications

    • Large for gestational age (LGA) infant
      • Defined as fetal or neonatal weight at or above the 90th percentile for gestational age
      • Macrosomia: Defined as birth weight ≥4000 grams
    • Increased maternal and perinatal morbidity
    • Increased risk of operative delivery (cesarean or instrumental vaginal)
    • Adverse neonatal outcomes: Shoulder dystocia and associated complications (brachial plexus injury, fracture)
    • Preeclampsia and gestational hypertension
      • Patients with GDM have an increased risk of developing these conditions
    • Polyhydramnios: More common in patients with GDM
    • Stillbirth: Increased risk in patients with GDM and suboptimal glucose control compared to the general obstetric population

    Gestational Diabetes Complications

    • Neonatal morbidity:
      • Increased risk of hypoglycemia, hyperbilirubinemia, hypocalcemia, hypomagnesemia, polycythemia, respiratory distress, and/or cardiomyopathy
      • Delayed pulmonary, hepatic, and neurologic organ maturity
      • Congenital defects (heart, neural tube, renal)
      • Abnormal fetal heart rate patterns
      • Intrauterine fetal growth retardation, and intrauterine fetal distress
    • Maternal infections
    • Maternal hypoglycemia, diabetic coma, ketoacidosis
    • Maternal cardiac, renal, ophthalmic, and peripheral vascular injuries

    Long Term Consequences of Gestational Diabetes

    • Risks extend beyond pregnancy and the neonatal period
    • GDM is a strong marker for maternal development of Type 2 diabetes, including diabetes-related vascular disease
    • GDM increases the offspring's risk for developing obesity, impaired glucose tolerance, and diabetes
    • Increased risk of cardiovascular disease in women

    Risk Factors for Gestational Diabetes

    • Personal history of impaired glucose tolerance, HbA1c>5.7
    • Family history of diabetes, especially first-degree relatives
    • Pre-pregnancy BMI >30, weight gain in early adulthood, between pregnancies, or between 18 and 24 weeks of pregnancy
    • Older maternal age >40

    Screening for Gestational Diabetes

    • Obtain hemoglobin A1c as part of prenatal laboratory studies at the initial visit
    • Manage as diabetic if >6.5
    • Targeted screening at 24-28 weeks gestational age with oral 1-hour glucose tolerance test:
      • 50-gram 1-hour oral glucose challenge test (OGCT) without PO intake restriction
      • 1-hour serum glucose > 140 mg/dl = abnormal → 3-hour OGTT
      • 1-hour serum glucose > 200 mg/dl = GDM (3-hour OGTT not performed)
    • 3-hour OGTT (if screen is abnormal, after overnight fast):
      • FBS obtained prior to start of test
      • 100 gram oral glucose load
      • ≥ 2 abnormal values = GDM

    Gestational Diabetes Management

    • Team approach: Patient, obstetrician, MFM specialist, and nutritionist
    • Goal = Euglycemia:
      • FBS < 95 mg/dl
      • 1-hour PP glucose < 140 mg/dl
      • 2-hour PP glucose < 120 mg/dl

    Gestational Diabetes Treatment

    • Diet: 30-35 kcal/kg/d
      • 3 small to moderate sized meals with 2 snacks
      • Limit carbohydrates to no more than 40% of the diet, ensuring that ketosis does not develop (40% carbohydrate, 20% protein, 40% fat with generous amount of fiber)
    • Exercise
      • Encourage mild to moderate aerobic exercise (walking) after meals
      • Prevent gestational weight gain
    • Glucose monitoring: Fasting and 1-2 hours post prandial
      • At least a total of 4 times a day
    • Medication (for patients not getting adequate control with diet and exercise):
      • Insulin is the medication of choice
        • Preferred: Combination of short-acting (lispro or aspart) pre-meal and intermediate-acting (NPH) insulin
        • Basal insulin (glargine and detemir) have not been studied extensively but appear safe
      • 2nd line/alternatives:
        • Metformin: Initial 500 mg daily or bid, max 2-2.5 g daily in two divided doses
        • Glyburide: 2.5-5 mg PO daily, increase 2.5 mg/wk. PRN to Max. 20 mg/day
        • Both drugs cross the placenta (in contrast to insulin)

    Insulin Therapy in Gestational Diabetes

    • Starting Insulin Dose 0.7-1.0 u/kg/d (based on present pregnant weight)
    • Combination of intermediate and short acting insulin
      • 2/3 of the insulin dose is given in the morning before breakfast
        • Morning dose: 2/3 NPH, 1/3 regular
      • 1/3 total daily dose given in the evening before dinner
        • ½ is regular
        • ½ is NPH

    Diabetes Management in Pregnancy

    • Antepartum:
      • Detailed ultrasonic study of fetus including echocardiogram to screen for fetal congenital heart malformations
      • Serial biophysical profile (BPP) weekly beginning at 32-34 wks GA
    • Delivery:
      • Spontaneous labor and vaginal delivery at term is preferred if fetus is stable
      • Cesarean delivery may be elected for large fetuses (>4500 g = 10 lbs)
    • Intrapartum:
      • Glucose control:
        • Monitor maternal glucose levels every hour
        • Maintain maternal euglycemia during labor (80-120 mg/dl)
        • Continuous infusion (IV) or PRN SQ doses of regular insulin for ↑glucose
      • Fetal monitoring:
        • Continuous electronic FHR monitoring is recommended for all DM patients
    • Postpartum:
      • After delivery of fetus and placenta insulin requirements drop sharply
      • Monitor plasma glucose levels QID (FBS & 1-hour postprandial)
      • Treat elevated glucose levels with lispro or regular insulin PRN
      • Screen for Type II DM 6 weeks postpartum with 2-hour OGTT
      • GDM patients should be counseled on use of ADA diet
      • Estrogen containing OCPs are not recommended for DM with vascular disease

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    LADA, MODY, & GDM PDF

    Description

    Explore the complexities of diabetes mellitus, including gestational diabetes, maturity-onset diabetes of the young (MODY), and latent autoimmune diabetes in adults. This quiz delves into the genetic aspects of diabetes, highlighting its types, causes, and management options. Test your knowledge on this critical health topic.

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