pg. 1 Pediatric Current Medical Diagnosis & Treatment: Ch 22: Liver & Pancreas Updated Exam with Correct Answers - 2024
What is upper intestinal obstruction? - ANSWER - Obstruction in the upper part of the intestines.
What are some causes of indirect hyperbilirubinemia in newborns? - ANSWER - Duodenal atresia, annular pancreas, pyloric stenosis.
What is the mechanism behind indirect hyperbilirubinemia in newborns with high intestinal obstruction?
- ANSWER - Unknown.
What is found on liver biopsy in pyloric stenosis? - ANSWER - Diminished levels of hepatic glucuronyl transferase.
What genetic condition may be indicated by indirect hyperbilirubinemia in newborns with high intestinal obstruction? - ANSWER - Gilbert syndrome.
What is the treatment for upper intestinal obstruction? - ANSWER - Usually surgical.
When does jaundice disappear in cases of upper intestinal obstruction? - ANSWER - Once adequate nutrition is achieved.
What is Gilbert syndrome? - ANSWER - A common form of familial hyperbilirubinemia.
What percentage of the population is affected by Gilbert syndrome? - ANSWER - 3%-7%.
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pg. 2 What is the association of Gilbert syndrome with hepatic bilirubin uridine diphosphate-glucuronyl transferase activity? - ANSWER - Partial reduction.
What symptoms may affected infants with Gilbert syndrome experience in the newborn period? - ANSWER - More rapid increase in jaundice.
What type of jaundice is accentuated in infants with Gilbert syndrome? - ANSWER - Breast milk jaundice.
What symptoms may individuals with Gilbert syndrome experience during puberty and beyond? - ANSWER - Mild fluctuating jaundice, especially with illness and vague constitutional symptoms.
What is thought to cause shortened red blood cell survival in some patients with Gilbert syndrome? - ANSWER - Reduced activity of enzymes involved in heme biosynthesis.
What treatment has been used to reduce hyperbilirubinemia in patients with Gilbert syndrome? - ANSWER - Administration of phenobarbital.
Is phenobarbital therapy necessary for patients with Gilbert syndrome? - ANSWER - No, it is not needed.
What is the disease inherited as? - ANSWER - An abnormality of the promoter region of UGT1A1.
What is UGT1A1? - ANSWER - Uridine diphosphate-glucuronyl transferase-1.
What is necessary for disease expression? - ANSWER - Another factor.
What are the common states of the disease? - ANSWER - Homozygous (16%) and heterozygous (40%).
Which gender is affected more often? - ANSWER - Males (4:1).
What is the typical range of serum unconjugated bilirubin? - ANSWER - Less than 3-6 mg/dL. 2 / 4
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Can the level of unconjugated bilirubin exceed 8 mg/dL? - ANSWER - Yes, in unusual cases.
What are the findings on liver biopsy and most LFTs? - ANSWER - Normal.
What increase in unconjugated bilirubin level after a 2-day fast is consistent with the diagnosis of Gilbert syndrome? - ANSWER - 1.4 mg/dL or more.
Can Gilbert syndrome occur following liver transplantation? - ANSWER - Yes, if conferred by the donor liver.
Is genetic testing for Gilbert syndrome commonly needed? - ANSWER - No, it is rarely needed.
Is treatment necessary for Gilbert syndrome? - ANSWER - No treatment is necessary.
What is another name for Crigler-Najjar Syndrome? - ANSWER - E. Crigler-Najjar Syndrome.
What is the article reference for more information on inherited disorders of bilirubin transport and conjugation? - ANSWER - Erlinger S et al: Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. Gastroenterology 2014 Jun;146(7):1625-1638
[PubMed: 24704527].
What is the article reference for more information on Gilbert syndrome in children after liver transplantation? - ANSWER - Kathemann S et al: Gilbert syndrome—a frequent cause of unconjugated hyperbilirubinemia in children after orthotopic liver transplantation. Pediatr Transplant 2012;16:20
[PubMed: 22360405].
What is the article reference for more information on severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism? - ANSWER - Travan L et al: Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism. J Pediatr 2014 Jul;165(1):42-45 [PubMed: 24726540].
What is Crigler-Najjar syndrome? - ANSWER - A genetic disorder characterized by severe unconjugated hyperbilirubinemia. 3 / 4
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What are the neurologic consequences of Crigler-Najjar syndrome? - ANSWER - Kernicterus.
How is the deficiency in UGT1A1 inherited? - ANSWER - Autosomal recessive.
Is consanguinity often present in Crigler-Najjar syndrome? - ANSWER - Yes.
What is the definitive test for Crigler-Najjar syndrome? - ANSWER - Genetic testing of UGT1A1.
What is the recommended treatment for Crigler-Najjar syndrome? - ANSWER - Exchange transfusions followed by phototherapy.
Does phenobarbital administration significantly alter the findings of Crigler-Najjar syndrome? - ANSWER - No.
Does phenobarbital lower serum bilirubin levels in Crigler-Najjar syndrome? - ANSWER - No.
What combination of treatments may keep bilirubin levels below 25 mg/dL in Crigler-Najjar syndrome? - ANSWER - Aggressive phototherapy and cholestyramine.
Can orlistat therapy decrease bilirubin in Crigler-Najjar syndrome? - ANSWER - Yes, in a subset of patients.
Is liver transplantation curative for Crigler-Najjar syndrome? - ANSWER - Yes.
Can liver transplantation prevent kernicterus in Crigler-Najjar syndrome? - ANSWER - Yes, if performed early.
What is the limitation of hepatocyte transplantation for Crigler-Najjar syndrome? - ANSWER - Requirement of multiple infusions of cells over time.
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