Podcast
Questions and Answers
Which of the following is a symptom of lactose intolerance in children?
Which of the following is a symptom of lactose intolerance in children?
Celiac disease is triggered by gluten-containing foods such as barley and rye.
Celiac disease is triggered by gluten-containing foods such as barley and rye.
True
What is the recommended dietary restriction for managing lactose intolerance in children?
What is the recommended dietary restriction for managing lactose intolerance in children?
Restriction of milk to less than 50 ml/kg/day and avoidance of lactose.
Celiac disease is associated with HLA ___ and ___ genetic markers.
Celiac disease is associated with HLA ___ and ___ genetic markers.
Signup and view all the answers
Match the following foods with their categories in relation to celiac disease:
Match the following foods with their categories in relation to celiac disease:
Signup and view all the answers
Which of the following is considered the best serological test for diagnosing gluten-related disorders?
Which of the following is considered the best serological test for diagnosing gluten-related disorders?
Signup and view all the answers
A gluten-free diet is only required for a limited time in patients diagnosed with gluten-related disorders.
A gluten-free diet is only required for a limited time in patients diagnosed with gluten-related disorders.
Signup and view all the answers
Name one clinical feature of gluten-related disorders.
Name one clinical feature of gluten-related disorders.
Signup and view all the answers
The intestinal injury caused by gluten consumption is associated with the stimulation of __________ and __________.
The intestinal injury caused by gluten consumption is associated with the stimulation of __________ and __________.
Signup and view all the answers
Match the following clinical features of gluten-related disorders with their descriptions:
Match the following clinical features of gluten-related disorders with their descriptions:
Signup and view all the answers
Which type of glycogen storage disease is associated with muscle involvement?
Which type of glycogen storage disease is associated with muscle involvement?
Signup and view all the answers
Both Type I and Type III GSD show organomegaly.
Both Type I and Type III GSD show organomegaly.
Signup and view all the answers
What is one method used in managing Type I GSD to maintain stable blood glucose levels?
What is one method used in managing Type I GSD to maintain stable blood glucose levels?
Signup and view all the answers
Type III (Cori) GSD shows a characteristic result of ______ for serum lactate and uric acid levels.
Type III (Cori) GSD shows a characteristic result of ______ for serum lactate and uric acid levels.
Signup and view all the answers
Match the following management strategies with their purpose:
Match the following management strategies with their purpose:
Signup and view all the answers
What is a common clinical feature of Idiopathic Hypertrophic Pyloric Stenosis (IHPS)?
What is a common clinical feature of Idiopathic Hypertrophic Pyloric Stenosis (IHPS)?
Signup and view all the answers
Erythromycin usage is a known association with Idiopathic Hypertrophic Pyloric Stenosis.
Erythromycin usage is a known association with Idiopathic Hypertrophic Pyloric Stenosis.
Signup and view all the answers
What type of metabolic imbalance is commonly seen in IHPS due to chronic vomiting?
What type of metabolic imbalance is commonly seen in IHPS due to chronic vomiting?
Signup and view all the answers
What is the primary purpose of a biopsy in relation to cholestasis?
What is the primary purpose of a biopsy in relation to cholestasis?
Signup and view all the answers
The pyloric muscle wall thickness in IHPS is typically measured at _____ mm.
The pyloric muscle wall thickness in IHPS is typically measured at _____ mm.
Signup and view all the answers
Match the diagnostic investigations for IHPS to their descriptions:
Match the diagnostic investigations for IHPS to their descriptions:
Signup and view all the answers
The Kasai procedure is performed to connect the liver to the jejunum and is effective if done within 60 days of birth.
The Kasai procedure is performed to connect the liver to the jejunum and is effective if done within 60 days of birth.
Signup and view all the answers
What type of triglyceride oil is used for medical management in cholestasis?
What type of triglyceride oil is used for medical management in cholestasis?
Signup and view all the answers
The portal reaction in intrahepatic neonatal cholestasis typically shows __________.
The portal reaction in intrahepatic neonatal cholestasis typically shows __________.
Signup and view all the answers
Match the complications with their corresponding deficiencies in cholestasis:
Match the complications with their corresponding deficiencies in cholestasis:
Signup and view all the answers
What is the most common cause of intrahepatic neonatal cholestasis?
What is the most common cause of intrahepatic neonatal cholestasis?
Signup and view all the answers
Dubin-Johnson syndrome is characterized by a defect in the organic anion transport protein (OATP).
Dubin-Johnson syndrome is characterized by a defect in the organic anion transport protein (OATP).
Signup and view all the answers
What symptom typically indicates persistent jaundice in neonatal cholestasis?
What symptom typically indicates persistent jaundice in neonatal cholestasis?
Signup and view all the answers
In neonatal cholestasis, the bilirubin that is increased is predominantly _____ bilirubin.
In neonatal cholestasis, the bilirubin that is increased is predominantly _____ bilirubin.
Signup and view all the answers
Match the following syndromes with their corresponding defects:
Match the following syndromes with their corresponding defects:
Signup and view all the answers
Which clinical feature is associated with Gaucher disease?
Which clinical feature is associated with Gaucher disease?
Signup and view all the answers
Zellweger syndrome can be misdiagnosed as Down's syndrome due to similar facial features.
Zellweger syndrome can be misdiagnosed as Down's syndrome due to similar facial features.
Signup and view all the answers
What gene defect is associated with Alagille syndrome?
What gene defect is associated with Alagille syndrome?
Signup and view all the answers
The most common cause of neonatal cholestasis is __________.
The most common cause of neonatal cholestasis is __________.
Signup and view all the answers
Match the following diseases with their clinical features:
Match the following diseases with their clinical features:
Signup and view all the answers
Which of the following features is commonly seen in adults with Wilson disease?
Which of the following features is commonly seen in adults with Wilson disease?
Signup and view all the answers
Wilson disease is an autosomal dominant disorder.
Wilson disease is an autosomal dominant disorder.
Signup and view all the answers
What is the gold standard for diagnosing Wilson disease?
What is the gold standard for diagnosing Wilson disease?
Signup and view all the answers
In Wilson disease, there is a defect in the ATP 78 gene located on chromosome ______.
In Wilson disease, there is a defect in the ATP 78 gene located on chromosome ______.
Signup and view all the answers
Match the following treatments for Wilson disease with their descriptions:
Match the following treatments for Wilson disease with their descriptions:
Signup and view all the answers
Which type of glycogen storage disease is the most common?
Which type of glycogen storage disease is the most common?
Signup and view all the answers
In von Gierke's disease, patients may present with prominent cheeks and renal enlargement.
In von Gierke's disease, patients may present with prominent cheeks and renal enlargement.
Signup and view all the answers
What enzyme deficiency is associated with Type II (Cori's) glycogen storage disease?
What enzyme deficiency is associated with Type II (Cori's) glycogen storage disease?
Signup and view all the answers
The accumulation of glucose-6-phosphate in glycogen storage disorders leads to elevated levels of __________ and __________.
The accumulation of glucose-6-phosphate in glycogen storage disorders leads to elevated levels of __________ and __________.
Signup and view all the answers
Match each type of glycogen storage disease with its corresponding enzyme deficiency:
Match each type of glycogen storage disease with its corresponding enzyme deficiency:
Signup and view all the answers
Which type of Crigler Najjar syndrome is characterized by the highest severity and risk of kernicterus?
Which type of Crigler Najjar syndrome is characterized by the highest severity and risk of kernicterus?
Signup and view all the answers
Gilbert syndrome is the most common cause of hereditary hyperbilirubinemia.
Gilbert syndrome is the most common cause of hereditary hyperbilirubinemia.
Signup and view all the answers
Name one management strategy used for Type I Crigler Najjar syndrome.
Name one management strategy used for Type I Crigler Najjar syndrome.
Signup and view all the answers
In Crigler Najjar syndrome Type II, serum bilirubin levels are typically __________ mg/dl.
In Crigler Najjar syndrome Type II, serum bilirubin levels are typically __________ mg/dl.
Signup and view all the answers
Match the following disorders of hereditary hyperbilirubinemia with their characteristics:
Match the following disorders of hereditary hyperbilirubinemia with their characteristics:
Signup and view all the answers
Study Notes
Diarrheal Disorders In Children
- Persistent diarrhea, damage to villi, and decreased lactase activity can lead to lactose intolerance.
- Unabsorbed lactose is fermented by colonic bacteria, resulting in hydrogen gas formation and gaseous stools.
- Lactic acid in stool lowers pH, potentially causing perianal excoriation.
- Dietary restrictions for lactose intolerance include limiting milk intake to under 50 ml/kg/day, avoiding lactose completely, reducing sugars and starches, and consuming plain glucose, cereals, egg whites, and chicken.
Celiac Disease
- Celiac disease is characterized by gluten hypersensitivity, causing chronic diarrhea.
- Gluten-containing foods include barley, rye, and wheat.
- Genetic predisposition involves HLA DQ2 and DQ8 alleles.
- Celiac disease is a T cell-mediated autoimmune disorder.
- Oats are relatively well-tolerated, while wheat is the most common culprit.
Gastrointestinal System
- Genetic predisposition combined with gluten consumption triggers an immune response, leading to intestinal injury.
- Celiac disease has associations with Down's syndrome, Hashimoto's thyroiditis, Turner's syndrome, selective IgA deficiency, and type 1 diabetes mellitus.
- Celiac disease typically presents after six months of age, following the cessation of exclusive breastfeeding.
- Clinical features include malabsorption, failure to thrive, chronic diarrhea, and anemia due to iron and folic acid deficiency.
Diagnosis of Celiac Disease
- Serological testing, including anti-tissue transglutaminase (TTG) antibody screening, is the initial diagnostic step.
- Anti-endomysial antibodies are considered the gold standard for serological diagnosis.
- Small intestinal (duodenal) biopsy is the preferred diagnostic tool in India, revealing villous atrophy, increased crypt length, and increased intraepithelial lymphocytes.
Treatment of Celiac Disease
- A lifelong gluten-free diet is the cornerstone of treatment, eliminating wheat and substituting it with rice and maize.
Gastrointestinal System
- The image illustrates the relationship between genetic predisposition, gluten consumption, and the subsequent immune response leading to intestinal injury.
- The bar graph in the image requires additional context for interpretation.
- The image shows a radiographic depiction of the "string sign", a characteristic finding in IHPS, indicating a narrowing of the pyloric channel.
Differences Between Type I and Type III GSD
- Type I (von Gierke) GSD involves organomegaly and elevated serum lactate and uric acid levels, while Type III (Cori) GSD does not.
- Type III GSD exhibits muscle involvement (eye), which is not seen in Type I.
Management of GSD
- Frequent feeding every 2-3 hours is crucial to prevent hypoglycemia.
- Uncooked corn starch is administered to provide a slow-release glucose source, maintaining stable blood glucose levels.
- Night feeds are essential, particularly for young children, using nasogastric feeds or waxy maize heat-modified starch for older children.
- The text also provides brief information about disorders of the liver in children.
Gastrointestinal System
- Symptoms of Dubin-Johnson and Rotor syndromes include intermittent fluctuating jaundice, precipitated by stressors like illness or fasting.
- Dubin-Johnson syndrome is caused by a defect in the multidrug resistant protein (MRP-2), leading to impaired conjugated bilirubin transport from hepatocytes to the bile duct.
- Rotor syndrome results from a defective organic anion transport protein (OATP).
- The onset of both Dubin-Johnson and Rotor syndromes is typically in adulthood or late adolescence, presenting with mild asymptomatic jaundice.
- Treatment for Dubin-Johnson syndrome mainly involves reassurance, as symptoms are often mild.
Neonatal Cholestasis
- Neonatal cholestasis is defined as impaired bile flow in the hepatobiliary system, leading to elevated conjugated bilirubin levels.
- It is characterized by persistent jaundice lasting longer than three weeks, pale-colored stools, and dark yellow urine.
- Common causes of intrahepatic neonatal cholestasis include idiopathic neonatal hepatitis, infections (TORCH, sepsis), and metabolic disorders like galactose-1-phosphate uridyl transferase deficiency and tyrosinemia type 1.
- Hepatorenal syndrome, a rare complication, involves proximal tubular damage and Fanconi-like syndrome with a boiled cabbage odor in urine.
Treatment of Neonatal Cholestasis
- Treatment for neonatal cholestasis often involves reassurance and observation, as some cases resolve spontaneously.
Idiopathic Hypertrophic Pyloric Stenosis (IHPS)
- IHPS is characterized by hypertrophy of the circular muscles in the pylorus, resulting in obstruction (stenosis).
- It is more common in first-born male children and associated with erythromycin usage.
- The onset of IHPS is typically around three weeks after birth.
- Clinical features include non-bilious projectile vomiting, epigastric swelling (often appearing olive-shaped), and visible gastric peristalsis.
- Dehydration and electrolyte imbalances are common due to chronic vomiting, leading to hypokalemic hypochloremic metabolic alkalosis.
Investigations for IHPS
- Ultrasonography (USG) is the diagnostic tool of choice, identifying a thickened pyloric muscle wall (≥ 24 mm) and an elongated pyloric channel (≥ 16 mm).
- Barium contrast X-ray is not commonly used and only employed if USG results are inconclusive, showing a narrowed pyloric channel as the "string sign".
Screening Tests for Neonatal Cholestasis
- Ultrasound screening for neonatal cholestasis assesses for a micro gallbladder or gallbladder ghost, and an atretic bile duct, which appears hyperechogenic.
- The HIDA scan, another screening tool, demonstrates reduced excretion of the tracer (Imino diacetic acid) and possesses a high negative predictive value.
Biopsy for Neonatal Cholestasis
- Liver biopsy is considered the best investigation to differentiate intrahepatic and extrahepatic cholestasis.
- Intrahepatic neonatal cholestasis is characterized by damaged hepatic architecture (lobules), the presence of giant cells, portal reaction (inflammation), and usually lacks neoductular or periductular proliferation.
- Extrahepatic biliary atresia (EHBA), on the other hand, exhibits normal hepatic architecture, giant cells, and portal reaction with fibrosis, and shows neoductular or periductular proliferation.
Clinical Impairment in Neonatal Cholestasis
- Consequences of neonatal cholestasis include malabsorption of long-chain triglycerides, deficiency of fat-soluble vitamins (A, D, E, K), micronutrient deficiency, and retention of biliary constituents like cholesterol.
Management of Neonatal Cholestasis
- Medical management involves supplementing with medium-chain triglyceride oil, fat-soluble vitamins (A, D, E, K), copper, magnesium, zinc, phosphorus, and a multivitamin syrup twice the RDA.
- Surgical management for EHBA includes the Kasai procedure, connecting the liver to the jejunum by creating a hepatoportoenterostomy, which is most effective when performed within 60 days of birth.
- Liver transplantation is the definitive treatment for EHBA due to the risk of cirrhosis and fibrosis later in life.
- Choledochal cysts are treated by excision and subsequent hepaticojejunostomy.
Disorders of Liver in Children
- Lysosomal storage disorders, including Gaucher disease and Niemann-Pick disease, are characterized by deficiency of specific enzymes, leading to the accumulation of specific substrates.
Gaucher Disease
- Caused by deficiency of Glucocerebrosidase, leading to the accumulation of glucocerebroside, resulting in hepatosplenomegaly, lytic bone lesions, bone pain, pancytopenia, and a "crumpled tissue paper" appearance on microscopic examination.
Niemann-Pick Disease
- Caused by deficiency of Sphingomyelinase, leading to the accumulation of sphingomyelin, resulting in hepatosplenomegaly, the presence of cherry red spots in the macula, and foamy cells on microscopic examination.
Syndromes
- Alagille Syndrome is caused by gene defects in JAGGED 1 and NOTCH a, leading to a decrease in intrahepatic bile ducts.
- Clinical features of Alagille Syndrome include pulmonary artery stenosis, a triangular facies, vertebral defects (hemivertebra and butterfly vertebra), and posterior embryotoxon, a slit lamp finding.
Zellweger Syndrome
- Zellweger Syndrome results from a gene defect in PEX genes, which code for peroxins, leading to the accumulation of very long-chain fatty acids.
- Patients with Zellweger Syndrome may be misdiagnosed as having Down's syndrome due to similar facial features and profound hypotonia.
Extrahepatic Causes of Neonatal Cholestasis
- Extrahepatic biliary atresia (EHBA) is the most common cause of neonatal cholestasis, resulting from severe fibrosis of the bile duct.
- Choledochal cysts are characterized by cystic dilation of the bile duct.
Evaluation of Neonatal Cholestasis
- Evaluation includes a thorough history and clinical examination, along with serum bilirubin determination (total and conjugated) and radiological imaging, particularly useful in EHBA.
Metabolic Liver Disease: Wilson Disease
- Wilson disease is an autosomal recessive disorder caused by a defect in the ATP7B gene on chromosome 13q.
- The ATP7B gene codes for a P-type ATPase, a copper-transporting protein.
- The defect in ATP7B results in increased free copper levels and decreased ceruloplasmin, leading to copper accumulation in the liver and other organs.
Wilson's Disease Features
- Onset is typically after three years of age.
- The liver is commonly affected in children, leading to chronic liver disease, cirrhosis, and end-stage liver disease.
- Central nervous system involvement is more common in adults, presenting as tremor, seizures, extrapyramidal symptoms, psychosis, and depression.
- Eye manifestations include copper deposits in the Descemet's membrane of the cornea (Kayser-Fleischer [KF] ring) and sunflower cataracts.
- Copper-mediated hemolysis can occur, presenting as a Coombs-negative hemolytic anemia.
- Arthralgia (joint pain) is another common presentation.
Investigations for Wilson Disease
- Screening includes elevated urinary copper levels and decreased serum ceruloplasmin levels.
- Liver biopsy is the gold standard for diagnosis, revealing increased copper deposition (> 250 µg/g of dry weight of the liver) and macrovesicular steatosis.
Treatment for Wilson Disease
- Treatment aims to restrict copper intake through dietary modifications (avoid nuts, chocolates, animal liver), chelate copper using agents like D-penicillamine or triethylenetetramine, and manage long-term with zinc to reduce copper absorption from the intestine.
- Liver transplantation is the definitive treatment.
Liver Glycogen Storage Disorders (GSD)
- GSD is characterized by defects in the breakdown of glycogen in the liver during fasting, leading to glycogen accumulation.
Clinical Presentation of GSD
- Clinical features include recurrent fasting hypoglycemia, hepatomegaly (due to glycogen accumulation), and muscle involvement in certain subtypes, resulting in exertional fatigue (due to decreased ATP production).
Types of Liver GSD
- Different types of GSD are defined based on the deficient enzyme involved.
- Type 0 involves a deficiency of glycogen synthase, resulting in the absence of glycogen deposit in the liver.
- Type I (von Gierke) is the most common type, caused by a deficiency of glucose-6-phosphatase (G6Pase), and may involve muscle involvement.
- Type II (Cori's) results from a deficiency of debranching enzyme and may also involve muscle involvement.
- Type III is caused by a deficiency of branching enzyme and may also involve muscle involvement.
- Types VI (Hers) and IX (phosphorylase kinase) involve deficiencies in the respective enzymes.
Other Features in Von Gierke's Disease
- Von Gierke's disease presents with prominent cheeks (doll-like facies), renomegaly visible on ultrasound,. and characteristic biochemical abnormalities.
Biochemical Pathways in GSD
- GSD leads to an accumulation of glucose-6-phosphate, which enters other pathways, including the pentose phosphate pathway, leading to increased ribose-5-phosphate, purine synthesis, and uric acid production.
- Pyruvate accumulates, eventually being converted to Acetyl CoA, leading to increased fatty acid synthesis and hyperlipidemia.
- Increased lactate production results in lactic acidosis.
Hereditary Hyperbilirubinemias
- Hereditary Hyperbilirubinemias, also known as syndromic jaundice, is an autosomal recessive condition characterized by persistent jaundice, either unconjugated (due to deficient bilirubin conjugation) or conjugated (due to defects in bilirubin secretion/excretion).
Disorders of Hereditary Hyperbilirubinemias
- Unconjugated bilirubin disorders include Crigler-Najjar syndrome and Gilbert syndrome.
- Conjugated bilirubin disorders include Dubin-Johnson syndrome and Rotor syndrome.
Crigler-Najjar Syndrome
- Crigler-Najjar syndrome is a rare disorder characterized by deficient UDP-glucuronosyltransferase (UDP-GT) activity, leading to impaired bilirubin conjugation and elevated unconjugated bilirubin levels.
- Type I is the most severe form, often fatal, presenting with absence of UDP-GT activity, high bilirubin levels (> 20 mg/dl), and a high risk of kernicterus.
- Type II, a less severe form, exhibits residual UDP-GT activity, lower bilirubin levels (< 20 mg/dl), and a lower risk of kernicterus.
- Management of both types involves supportive measures like phototherapy, exchange transfusion, and, in Type I, liver transplantation.
- Type I does not respond to phenobarbitone, an enzyme inducer, while Type II exhibits reduced jaundice in response.
Gilbert Syndrome
- Gilbert Syndrome, the most common form of hereditary hyperbilirubinemia, involves a mild UDP-GT deficiency, resulting in a benign form of unconjugated hyperbilirubinemia.
- The mild defect leads to mild elevation of unconjugated bilirubin (1-6 mg/dl), typically presenting during adolescence or puberty.
- Note:* The image represents the pathways and features of certain liver diseases. Unfortunately, providing a complete description without the image itself is not possible.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Description
Test your knowledge on dietary restrictions related to lactose intolerance and gluten-related disorders in children. This quiz covers symptoms, dietary management, and serological tests essential for understanding these health issues. Brush up on crucial information concerning nutrition and genetics!
