Human Growth and Development Quiz
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Questions and Answers

What characterizes the infantile phase of human growth?

  • Linear growth is initially slow and then accelerates.
  • Growth plate development determines the height at this stage.
  • Growth is slow and steady throughout the phase.
  • There is a rapid initial growth of about 25 to 30 cm. (correct)

Which hormone is crucial during the intrauterine phase for determining newborn size?

  • Estrogen
  • Insulin (correct)
  • Growth Hormone
  • Testosterone

In which growth phase is the average growth velocity per year approximately 5 to 7 cm?

  • Intrauterine phase
  • Childhood phase (correct)
  • Infantile phase
  • Pubertal phase

What is the significance of the growth plate in human growth?

<p>It is essential for longitudinal growth. (D)</p> Signup and view all the answers

What is the average height growth during puberty?

<p>8 to 14 cm per year (B)</p> Signup and view all the answers

Which growth charts are currently recommended for measuring children under 2 years of age?

<p>WHO international charts (2006) (A)</p> Signup and view all the answers

What is a key indicator of health in children concerning growth?

<p>Serial measurements of growth patterns. (A)</p> Signup and view all the answers

What factors influence the determination of normal height in children?

<p>Age, sex, and ethnic group. (B)</p> Signup and view all the answers

What is a significant side effect associated with Chloramphenicol in infants?

<p>Gray baby syndrome (A)</p> Signup and view all the answers

Which class of antibiotics is known for potentially damaging growing cartilage in children?

<p>Fluoroquinolones (C)</p> Signup and view all the answers

Which antibiotic is absolutely contraindicated in children due to its effects on bone growth and teeth?

<p>Tetracycline (A)</p> Signup and view all the answers

What side effect is associated with Aminoglycosides?

<p>Nephrotoxicity (B)</p> Signup and view all the answers

Which type of antibiotic primarily covers gram-positive bacteria?

<p>Glycopeptides (B)</p> Signup and view all the answers

What is a common side effect of Tetracyclines?

<p>Bone growth inhibition (A)</p> Signup and view all the answers

Which antibiotic class binds to the 50S ribosomal subunit?

<p>Macrolides (D)</p> Signup and view all the answers

Which of the following is a relative contraindication for use in pediatric patients?

<p>Fluoroquinolones (C)</p> Signup and view all the answers

What is the genetic inheritance pattern most commonly associated with the condition described?

<p>X-linked recessive inheritance (B)</p> Signup and view all the answers

Which of the following is a significant clinical feature of the condition?

<p>Gross hematuria (D)</p> Signup and view all the answers

What is the best initial laboratory test for diagnosing the condition?

<p>Urinalysis (B)</p> Signup and view all the answers

Which of the following findings is likely absent in the skin biopsy of a patient with the condition?

<p>Type IV collagen alpha-5 chains (C)</p> Signup and view all the answers

Patients diagnosed with the condition should undergo which type of evaluations regularly?

<p>Audiometric evaluation (B)</p> Signup and view all the answers

Which class of medication is commonly prescribed for patients exhibiting proteinuria?

<p>ACE inhibitors (A)</p> Signup and view all the answers

What is the characteristic appearance of the kidney tissue in a biopsy of a patient with the condition if the skin biopsy is inconclusive?

<p>Basket-weave appearance (B)</p> Signup and view all the answers

In which age range does end-stage renal disease typically manifest in patients with this condition?

<p>16 to 35 years (C)</p> Signup and view all the answers

What is the primary goal of empiric antibiotic therapy?

<p>To provide immediate treatment for suspected life-threatening infections (D)</p> Signup and view all the answers

Which of the following antibiotics is NOT typically used for pediatric empiric therapy?

<p>Tetracyclines (C)</p> Signup and view all the answers

When choosing an empirical antibiotic agent, it is important to consider which of the following factors?

<p>Host factors and previous antibiotic therapy (C)</p> Signup and view all the answers

Which combination is indicated for treating a neonate with suspected bacterial infection?

<p>Ampicillin + gentamicin + cefotaxime (A)</p> Signup and view all the answers

Which antibiotic is often used for prophylaxis against infective endocarditis?

<p>Amoxicillin (D)</p> Signup and view all the answers

Which symptom is NOT typically associated with Henoch-Schönlein purpura (HSP)?

<p>Severe hypertension (A)</p> Signup and view all the answers

What is the primary characteristic of the purpura seen in Henoch-Schönlein purpura?

<p>Non-blanching lesions (A)</p> Signup and view all the answers

What is the typical time frame for the onset of symptoms after an infection in patients with post-streptococcal glomerulonephritis (PSGN)?

<p>10-20 days after the infection (C)</p> Signup and view all the answers

Which medication is commonly used for patients with severe or rapidly progressing disease of minimal change disease?

<p>Glucocorticoids PLUS cyclophosphamide (D)</p> Signup and view all the answers

Which of the following laboratory findings would indicate a diagnosis other than Henoch-Schönlein purpura?

<p>Thrombocytopenia (B)</p> Signup and view all the answers

What is the peak occurrence age for Henoch-Schönlein purpura?

<p>6 years old (C)</p> Signup and view all the answers

What is the most common type of skeletal dysplasia associated with short stature?

<p>Achondroplasia (B)</p> Signup and view all the answers

Which of the following is a hallmark for the biopsy findings in Henoch-Schönlein purpura?

<p>IgA deposition in small vessels (A)</p> Signup and view all the answers

Which genetic mutation is primarily associated with achondroplasia?

<p>Mutation in FGFR3 (C)</p> Signup and view all the answers

In patients with Alport syndrome, which symptom is least likely to be present?

<p>Joint pain (B)</p> Signup and view all the answers

Which treatment is recommended for mild cases of Henoch-Schönlein purpura?

<p>NSAIDs for pain management (B)</p> Signup and view all the answers

What is one of the primary clinical features of osteogenesis imperfecta?

<p>Brittle bones (C)</p> Signup and view all the answers

Which factor is NOT considered a potential trigger for Henoch-Schönlein purpura?

<p>Cigarette smoking (A)</p> Signup and view all the answers

Which syndrome is characterized by a complete absence of an X chromosome?

<p>Turner syndrome (D)</p> Signup and view all the answers

What type of collagen defect is associated with Alport syndrome?

<p>Type IV collagen (A)</p> Signup and view all the answers

Which clinical feature is NOT typically associated with Turner syndrome?

<p>Hyperphagia (A)</p> Signup and view all the answers

What is one of the treatment options for achondroplasia?

<p>Growth hormone administration (D)</p> Signup and view all the answers

Which condition is often confused with Henoch-Schönlein purpura due to similar symptoms?

<p>IgA nephropathy (C)</p> Signup and view all the answers

IgA nephropathy is known for which clinical feature?

<p>Synpharyngitic hematuria (A)</p> Signup and view all the answers

What is a common gastrointestinal symptom associated with Henoch-Schönlein purpura?

<p>Colicky abdominal pain (B)</p> Signup and view all the answers

Which condition presents with blue sclerae and easy bruising due to defective collagen synthesis?

<p>Osteogenesis imperfecta (A)</p> Signup and view all the answers

For patients with Henoch-Schönlein purpura, which finding on a urinalysis would most likely indicate renal involvement?

<p>Proteinuria (D)</p> Signup and view all the answers

What common laboratory finding might suggest IgA nephropathy?

<p>Persistent microhematuria (A)</p> Signup and view all the answers

Which of the following is a characteristic feature of Prader-Willi syndrome?

<p>Hypotonia (A)</p> Signup and view all the answers

What is the primary cause of hearing loss in osteogenesis imperfecta?

<p>Defective ossicles (C)</p> Signup and view all the answers

Which age group is IgA nephropathy most commonly diagnosed in?

<p>Adults in second to third decades of life (A)</p> Signup and view all the answers

What is a common treatment option for osteogenesis imperfecta?

<p>Bisphosphonates (C)</p> Signup and view all the answers

What common symptom might indicate the presence of chronic glomerulonephritis?

<p>Asymptomatic hematuria (D)</p> Signup and view all the answers

What is the target height formula for girls?

<p>(Mother's height + Father's height - 13) / 2 (D)</p> Signup and view all the answers

Which condition is classified as disproportionate short stature?

<p>Osteochondrodysplasia (A)</p> Signup and view all the answers

What is a common cause of short stature with unknown origin, covering 80% of cases?

<p>Constitutional short stature (C)</p> Signup and view all the answers

What defines short stature in children?

<p>Height at least 2 SD below the mean for age and sex (B)</p> Signup and view all the answers

Which of the following is NOT a cause of postnatal short stature?

<p>Achondroplasia (B)</p> Signup and view all the answers

What is the typical incidence of short stature referrals to a pediatric endocrinologist?

<p>3 to 5% (D)</p> Signup and view all the answers

What is the defining feature of proportional short stature?

<p>Short limbs in relation to trunk (B)</p> Signup and view all the answers

Which syndrome is characterized by excessive sweating and feeding problems in infancy?

<p>Silver-Russell syndrome (D)</p> Signup and view all the answers

What laboratory test is NOT typically used to confirm GH deficiency?

<p>Serum GH level (C)</p> Signup and view all the answers

Which of the following is included in the goals of GH treatment?

<p>Aim for heights of up to 170 cm for males (D)</p> Signup and view all the answers

Which gene mutation is responsible for Achondroplasia?

<p>FGFR3 gene (D)</p> Signup and view all the answers

What is the expected outcome for 80-90% of children classified as small for gestational age (SGA)?

<p>They will experience partial or complete catch-up growth (D)</p> Signup and view all the answers

What is a characteristic of congenital growth hormone deficiency?

<p>Hypoglycemia in newborns (C)</p> Signup and view all the answers

Which condition is referred to as the 'male version of Turner syndrome'?

<p>Noonan syndrome (C)</p> Signup and view all the answers

Flashcards

Infantile growth phase

The stage of human growth from birth to two years where growth is initially rapid and gradually slows down.

Childhood growth phase

The period of growth from around 3 years old to adolescence, characterized by a steady growth velocity.

Pubertal growth phase

The stage of rapid growth during puberty, often resulting in an increase of 8 to 14 cm per year.

Growth plate

A specialized area of cartilage at the end of long bones responsible for longitudinal growth.

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Growth monitoring

The process of measuring and tracking a child's growth over time, including height, weight, and BMI.

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Infantometer

A tool used to measure the length of newborns and infants.

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Growth chart

A standardized chart representing the normal growth patterns of healthy children.

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Determining normal height

The process of determining a child's height based on their age, sex, and ethnic group.

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Osteogenesis Imperfecta

A genetic disorder affecting the synthesis of type 1 collagen, essential for bone formation. Characterized by brittle bones, easy bruising, blue sclerae, joint laxity, hearing loss, and opalescent teeth.

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Achondroplasia

A type of dwarfism characterized by short limbs and a normal-sized torso.

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Achondroplasia

Most common type of dwarfism, with short limbs and average-sized torso. Caused by a mutation in the FGFR3 gene.

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Turner Syndrome

A rare genetic disorder causing short stature, ovarian failure, heart defects, and kidney problems. Characterized by a missing X chromosome (45,X).

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Prader-Willi Syndrome

A genetic disorder characterized by weak muscles, feeding difficulties in infancy, and later, excessive eating and obesity. Caused by a microdeletion on chromosome 15.

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IgA Nephropathy (Berger Disease)

The most common primary glomerulonephritis worldwide. Characterized by IgA deposition in the kidneys, typically affecting males in their 20s and 30s.

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IgA Nephropathy Pathogenesis

The deposition of IgA immune complexes in the kidney.

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Henoch-Schönlein Purpura (HSP)

A syndrome characterized by IgA-mediated vasculitis triggered by mucosal infections. Typically affects children under 10 years old and involves multiple organ systems.

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Alport Syndrome

A rare, inherited kidney disease that affects the glomerulus, causing progressive kidney failure. Patients often have hearing loss and eye abnormalities.

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Chronic Glomerulonephritis (GN)

A kidney disorder characterized by inflammation of the glomeruli. It can be primary, caused by the immune system, or secondary, caused by other diseases.

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Short stature in children

A condition where a child's height is significantly below the average for their age and sex, typically more than 2 standard deviations below the mean.

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Median growth rate

The average growth rate in children, measured in centimeters per year.

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Target height

A measure of a child's predicted adult height based on their parents' height.

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Proportionate short stature

A type of short stature where a child's limbs are proportionate to their trunk.

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Disproportionate short stature

A type of short stature where a child's limbs are disproportionately short compared to their trunk.

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Growth failure

A condition where a child's growth rate is significantly slower than normal.

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Idiopathic short stature (ISS)

Short stature that has no identifiable cause.

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Noonan syndrome

A group of genetic disorders that cause problems with growth and development, often with short stature, heart defects, and other features.

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Silver-Russell syndrome

A rare genetic disorder that affects growth and development, causing short stature, facial features, and other problems.

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Growth hormone deficiency

A condition where the body does not produce enough growth hormone.

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Pseudohypoparathyroidism

A disorder where the body's tissues cannot respond properly to growth hormone.

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Growth hormone replacement therapy

The use of recombinant growth hormone to treat certain conditions, such as growth hormone deficiency, Turner syndrome, and chronic renal failure.

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X-linked recessive inheritance

A type of inheritance pattern where a mutated gene located on the X chromosome causes the disorder, primarily affecting males.

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Type IV collagen

A protein that forms a crucial part of the basement membrane, found in various tissues like kidneys, eyes, and ears.

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Glomeruli

The filtering units in the kidneys responsible for removing waste products from the blood.

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Nephritic syndrome

A condition characterized by red blood cells in the urine, protein in the urine, high blood pressure, and swelling, signifying kidney damage.

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Chronic Kidney Disease (CKD)

A progressive decline in kidney function, ultimately requiring dialysis or a transplant.

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Skin biopsy

A specialized test that examines the presence or absence of type IV collagen in a skin sample.

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Kidney biopsy

A procedure where a small sample of kidney tissue is analyzed under a microscope, often used to confirm the diagnosis.

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Molecular genetic testing

A technique that analyzes the genetic makeup of an individual, identifying specific mutations in genes.

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Urinalysis

An initial test that involves examining the urine for signs of abnormalities, particularly red blood cells and protein.

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Lenticonus

A condition where the lens of the eye bulges outwards, a common complication of Alport syndrome.

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Empiric therapy

The act of starting antibiotic treatment before the exact causative organism is identified.

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Prophylactic therapy

Antibiotic therapy given before surgery to prevent infections.

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Targeted therapy

Antibiotic therapy chosen based on the most likely causative organism after culture results are available.

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Goodpasture's syndrome

A serious complication of kidney transplantation in Alport syndrome patients, involving an immune response against type IV collagen.

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What is Gray Baby Syndrome?

A serious adverse drug reaction that can occur in infants due to a lack of the enzyme UDP-glucuronosyltransferase (UDP-GT) in the liver, leading to accumulation of chloramphenicol and causing severe toxicity.

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What does 'Contraindication' mean in medicine?

This condition occurs when a drug or substance is contraindicated for use in a particular patient population.

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How do cell wall synthesis inhibitors work?

Inhibitors of cell wall synthesis work by preventing the formation of peptidoglycan, a crucial component of bacterial cell walls.

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What is the mechanism of action of protein synthesis inhibitors?

These antibiotics work by disrupting bacterial protein synthesis, which is essential for the production of essential proteins needed for bacterial survival.

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Why are fluoroquinolones contraindicated in children?

Fluoroquinolones, a group of antibiotics, are contraindicated in children due to their potential to damage growing cartilage and cause arthropathy.

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What are relative contraindications for antibiotics in children?

Certain antibiotics, such as chloramphenicol, erythromycin, and fluoroquinolones, are considered relatively contraindicated in children due to potential risks and limited evidence to support their use.

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Why is tetracycline strictly contraindicated in children?

Tetracycline is strictly contraindicated in children due to its adverse effects on bone growth and tooth discoloration.

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How do DNA synthesis inhibitors work?

This type of antibiotic works by inhibiting the synthesis of essential molecules required for DNA replication, such as DNA gyrase and topoisomerase IV.

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What is Henoch-Schönlein purpura (HSP)?

An acute immune complex-mediated small vessel vasculitis that commonly affects children, often after an upper respiratory tract infection, presenting with a distinct tetrad of symptoms: palpable purpura, arthritis/arthralgia, abdominal pain, and renal disease.

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Who is most affected by HSP?

HSP is more prevalent in males, with 90% of cases occurring in children under 10 years of age, peaking around 6 years old.

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What triggers HSP?

The exact cause of HSP is unknown, but a preceding infection is suspected in 75% of cases, often a viral or bacterial upper respiratory tract infection, particularly Group A Streptococcus.

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How does HSP present on the skin?

HSP often manifests with skin lesions, particularly symmetrical, raised, red macules or urticarial lesions that develop into palpable purpura, most commonly found on the lower extremities, buttocks, and areas of pressure.

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How does HSP affect joints?

Arthritis/arthralgia is seen in 75% of HSP cases, typically affecting the ankles and knees bilaterally. Joints may be painful and swollen, leading to a limp.

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What GI symptoms can HSP cause?

About 60% of HSP patients experience abdominal pain, sometimes mimicking acute abdomen, due to bowel inflammation, potentially causing bloody stools and vomiting.

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How does HSP affect the kidneys?

Renal involvement is present in 50% of HSP cases, manifesting as HSP nephritis with signs similar to Berger's disease (IgA nephropathy), often presenting as hematuria.

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How is HSP diagnosed?

HSP is a clinical diagnosis, but laboratory tests are helpful in excluding differential diagnoses or confirming renal involvement. A normal or increased platelet count is expected. Elevated IgA levels and complement activation may be present.

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What can a biopsy show in HSP?

Skin biopsy is indicated in cases with unusual skin presentations or severe renal involvement. It shows leukocytoclastic vasculitis with IgA and C3 immune complex deposition in small vessels of the dermis.

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How is HSP typically treated?

HSP is mostly self-limiting, requiring supportive care with pain management and regular follow-up. In severe cases, hospitalization with systemic glucocorticoids may be necessary.

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What renal complications can arise from HSP?

HSP nephritis can progress to nephrotic syndrome with proteinuria, which may eventually lead to chronic kidney disease.

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Describe Alport Syndrome.

Alport syndrome is a genetic disorder characterized by glomerulonephritis, often accompanied by hearing loss and sometimes eye abnormalities. It is caused by mutations in genes responsible for type IV collagen, primarily affecting males due to its X-linked inheritance pattern.

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What is the prevalence and age of onset of Alport Syndrome?

Alport syndrome is a rare disorder, but it is the most commonly inherited form of nephritis. Hematuria may present in infancy, while severe disease typically develops during adolescence.

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Describe Poststreptococcal Glomerulonephritis (PSGN).

This condition is closely associated with low levels of complement in the blood and commonly occurs 10-20 days after an infection, most often tonsillitis.

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How is Membranoproliferative Glomerulonephritis (MPGN) managed?

Treatment for MPGN involves regular monitoring of kidney function and initiating medication if the disease progresses. Approximately 30% of patients see spontaneous symptom resolution.

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What medications are commonly used for MPGN?

Patients with MPGN who exhibit significant proteinuria or hypertension often benefit from ACE inhibitors or angiotensin II receptor blockers.

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How is severe MPGN treated?

For severe or rapidly progressive cases of MPGN, the use of glucocorticoids in combination with cyclophosphamide or azathioprine is recommended to prevent end-stage renal disease (ESRD).

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What is Lupus Nephritis and how is it connected to other diseases?

Lupus nephritis, an autoimmune disease, can affect the kidneys in individuals with systemic lupus erythematosus.

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Study Notes

Growth Disorders

  • Human growth is a continuous, though not linear, process, divided into infantile, childhood, and pubertal phases, each with distinct patterns. Timing and speed of growth differ between boys and girls, especially during puberty.
  • Intrauterine growth is primarily influenced by maternal nutrition and placental factors. Insulin plays a role by stimulating IGF1/2 production. A newborn's typical length is around 50 cm.
  • Infantile phase (first two years): Growth is initially rapid, then decelerates. Typical growth during this period is 25 to 30 cm.
  • Childhood phase (3 years to adolescence): Growth is relatively constant at 5 to 7 cm per year, with some slowing in later childhood.
  • Pubertal phase: Characterized by a growth spurt, typically 8 to 14 cm per year. Increased gonadal steroids (testosterone and estrogen) and growth hormone (GH) synergistically drive this growth, along with IGF-1.
  • The growth plate is crucial for longitudinal growth.
  • Serial growth measurements are vital for monitoring child health. Normal growth patterns suggest good health; slower-than-normal growth may indicate underlying illness, including hormonal issues.
  • Auxological parameters (height/length, weight, BMI) are fundamental for assessing potential short stature.

Measurement of Growth

  • Newborn measurements (length, weight, head circumference) are crucial, compared to gestational age.
  • Infantometer is used to measure newborns and infants.
  • Children over two years are measured by height, weight, and head circumference, corresponding to their gender. Stadiometer is used for standing measurements.
  • WHO international growth charts (2006) are recommended for children under two; local charts are used for older children.
  • Normal height is based on age, sex, ethnicity, and family context. Target height is calculated based on parental heights (differing calculations for boys and girls).

Short Stature

  • Short stature is defined as a height 2 standard deviations below the mean for the same age, sex, and ethnic group (or below the 3rd percentile). Common causes include familial factors or constitutional delay.
  • Growth failure is a growth rate below normal.
  • Short stature is a frequent reason for referral to pediatric endocrinologists, with an incidence of 3-5%.
  • Growth hormone deficiency prevalence is around 1 in 4000.

Classification

  • Proportionate short stature: Limbs are proportionate to the trunk, often familial.
  • Disproportionate short stature: Limbs are disproportionately shorter than the trunk, associated with skeletal dysplasia.

Etiology of Short Stature

  • Unknown origin (Idiopathic short stature): Accounts for ~80% of cases, including familial and constitutional short stature. Constitutional short stature arises from delayed puberty.

  • Prenatal origin:

  • Disproportionate SS: osteochondrodysplasia (e.g., achondroplasia, hypochondroplasia - FGFR3 gene mutations), osteogenesis imperfecta (collagen 1 gene mutations), SHOX gene-related conditions (e.g., Leri-Weill dyschondroosteosis, Langermesomelic dysplasia).

  • Proportionate SS: Silver-Russell syndrome (IUGR, feeding problems, triangular face, clinodactyly), Turner syndrome (45XO), Noonan syndrome (autosomal dominant, "male Turner syndrome"), Prader-Willi syndrome (SNPRN and Necdin gene defects, hypotonia, severe obesity).

  • Congenital growth hormone deficiency

  • Small for gestational age (SGA): Birth weight and/or length are 2 standard deviations below the mean for gestational age. Most SGA children experience catch-up growth in the first and second year.

  • Postnatal origin:

  • Endocrine disorders: Growth hormone deficiency, hypothyroidism, chronic hypercortisolism (including glucocorticoid use), sex steroid excess, pseudohypoparathyroidism.

  • GI disorders: Inflammatory bowel disease, celiac disease.

  • Renal disorders: Chronic kidney disease.

  • Pulmonary disorders: Asthma, cystic fibrosis. Postnatal short stature is not usually due to GH deficiency, but rather related organ pathologies.

Growth Hormone Deficiency

  • Congenital: Presents in newborns (hypoglycemia in some forms), toddlers/preschoolers with lifelong short stature, doll-like facies, truncal obesity, and brachydactyly.
  • Acquired: Results from trauma, tumors (craniopharyngeoma), or autoimmune conditions.

Diagnosis of Short Stature

  • History (perinatal, family).
  • Physical exam (auxological parameters, pubertal stage).
  • Growth pattern analysis.
  • X-ray of left hand and wrist (bone age).
  • Laboratory tests (CBC, CRP/ESR, biochemical markers, renal/liver/thyroid tests, urinalysis).

Tests to Confirm GH Deficiency:

  • IGF-1 measurement.
  • Stimulation tests (insulin tolerance test, clonidine test, glucagon test). MRI of pituitary for follow up.
  • Treatment: addressing underlying causes and, potentially, recombinant GH therapy.

Achondroplasia

  • Common skeletal dysplasia, caused by FGFR3 gene mutation. It has variable inheritance patterns.
  • Characteristics include short stature, macrocephaly, prominent brow, midface retrusion, flattened nose, and spinal curvature abnormalities.
  • Average height for adults (males ~131cm, females ~124cm).
  • Treatment includes GH treatment.

Osteogenesis Imperfecta

  • Genetic disorder causing type I collagen deficiency impacting bone formation.
  • Features include brittle bones, fractures from minimal trauma, blue sclerae, joint laxity, hearing loss, and opalescent teeth.
  • Treatment is supportive, focusing on managing fractures; IV bisphosphonates may be used.

Turner Syndrome

  • Condition with complete absence of one X chromosome (45,X).
  • Features include short stature, ovarian failure, congenital heart defects (CoA), kidney anomalies (horseshoe kidney), webbed neck, broad chest, wide-set nipples, low-set ears, and neonatal lymphedema.

Prader-Willi Syndrome

  • Microdeletion syndrome (15q11-13) resulting in hypotonia, feeding problems, dolichocephaly, small mouth, hypogonadism, short stature, hyperphagia, severe obesity, intellectual disability, and temperament issues.

Chronic Glomerulonephritis

  • Chronic GN can have few symptoms initially, presenting as asymptomatic hematuria or proteinuria.
  • It may be preceded by acute nephritic syndrome. Causes could be primary (e.g., IgA nephropathy) or secondary (e.g., lupus nephritis).

IgA Nephropathy (Berger Disease)

  • Most common primary GN. Frequently affects males. Etiology is unknown, but hypothesized to be related to circulating IgA antibody defects.
  • Highly variable course. Can involve asymptomatic stages, recurring episodes of gross hematuria with flank pain/fever following infections ("synpharyngitic hematuria"). Can lead to rapid progression to RPGN and/or nephrotic syndrome (~10%) and ESRD (~50%).
  • Diagnosis is based on clinical presentation, urinalysis (hematuria, proteinuria), serum IgA levels(sometimes elevated), and biopsy (mesangial proliferation, IgA deposits).
  • Differentiate from post-streptococcal GN (low complement levels, 10-20 days after infection), lupus nephritis, or MPGN.
  • Treatment includes monitoring, ACE inhibitors/ARBs, and, for severe cases, glucocorticoids plus immunosuppressants.

Henoch-Schönlein Purpura (HSP)

  • Acute immune complex-mediated small vessel vasculitis, most common in children (~90% under 10 yrs).
  • Typically presented by a tetrad of symptoms: palpable purpura, arthritis/arthralgia, abdominal pain, and renal disease. Often preceded by an upper respiratory infection (1-3 weeks prior).
  • Diagnosis is based on clinical presentation, and laboratory tests (CBC, coagulation, serum antibodies, urinalysis). Biopsy is potentially required in complex cases, for confirmation and to assess severity of presentations (skin showing leukocytoclastic vasculitis with IgA and C3 deposits, kidney biopsy showing mesangial IgA and possible crescents).
  • Differentiate from other causes of purpura, arthritis, and renal involvement.
  • Treatment is typically supportive, with pain management and regular follow-up. Severe cases can require hospitalization and systemic glucocorticoids.

Alport Syndrome

  • Genetic disorder caused by a defect in type IV collagen, primarily inherited as an X-linked recessive trait.
  • Often presents with asymptomatic hematuria in infancy.
  • Characterized by progressive glomerulonephritis, leading to ESRD (typically in adolescence-early adulthood), sensorineural hearing loss, and sometimes eye abnormalities (lenticonus).
  • Diagnosis involves urinalysis, molecular genetic testing, and potentially renal biopsy (LM/EM showing "basket-weave" appearance).
  • Treatment involves monitoring renal function, and potentially ACE inhibition, hearing aids, and surgical corrections (if needed).

Antibiotic Therapy in Children

  • Empiric vs. targeted therapy.
  • Prophylactic therapy is used to prevent infections in immunosuppressed patients, before/after surgery, or in post-exposure situations.
  • Empiric therapy is used for life-threatening or severe infections, before the causative organism is known. Specific empirical therapy suggestions based on suspected site and potential pathogens. Factors influencing antibiotic choice include the suspected infection site (upper vs. lower respiratory tract and other considerations), host factors (immunosuppression, geographical location, and pre-existing conditions), and drug factors (resistance, side effects).
  • Contraindications/specific considerations in pediatric antibiotic use exist for various types of antibiotics (e.g., aminoglycosides).

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Test your knowledge on the various phases of human growth, including the infantile phase, intrauterine hormone influences, and the significance of growth velocity and growth plates. This quiz covers key indicators of health and the factors that determine normal height in children.

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