TEST BANK For CURRENT Diagnosis and Treatment
Pediatrics 27th Edition by Maya Bunik; William W. Hay
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%.
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.
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.
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.
What are the current clinical trials for Crigler-Najjar syndrome? - ANSWER: Adeno-
associated virus vector-mediated gene therapy and mesenchymal stem cell therapy.
, What is the milder form of Crigler-Najjar syndrome? - ANSWER: Type 2.
How is the milder form of Crigler-Najjar syndrome inherited? - ANSWER: Both
autosomal dominant and recessive.
Are neurologic complications common in the milder form of Crigler-Najjar
syndrome? - ANSWER: Rarely.
How does hyperbilirubinemia in the milder form of Crigler-Najjar syndrome compare
to the severe form? - ANSWER: Less severe.
What is the response to phenobarbital treatment in the milder form of Crigler-Najjar
syndrome? - ANSWER: Lowering of serum bilirubin levels.
Are liver biopsy findings and liver function tests normal in both types of Crigler-Najjar
syndrome? - ANSWER: Yes.
What is drug-induced hyperbilirubinemia? - ANSWER: Elevation of bilirubin levels
caused by certain medications.
Which medication can elevate indirect bilirubin levels by causing hemolysis? -
ANSWER: Vitamin K3 (menadiol).
Which medication can be safely used in neonates to prevent hyperbilirubinemia? -
ANSWER: Vitamin K1 (phytonadione).
Which medication can cause conjugated hyperbilirubinemia in infancy? - ANSWER:
Carbamazepine.
Which medications may cause unconjugated hyperbilirubinemia? - ANSWER:
Rifampin and antiretroviral protease inhibitors (PIs; atazanavir).
Which drugs have been implicated in causing neonatal jaundice? - ANSWER:
Pancuronium bromide and chloral hydrate.
Which drugs may displace bilirubin from albumin, increasing the risk of kernicterus? -
ANSWER: Ceftriaxone and sulfonamides.
What is conjugated noncholestatic hyperbilirubinemia? - ANSWER: A condition
characterized by elevated conjugated bilirubin levels.
What are the two types of conjugated noncholestatic hyperbilirubinemia? -
ANSWER: Dubin-Johnson Syndrome and Rotor Syndrome.
What are the suspected diagnoses when persistent or recurrent conjugated
hyperbilirubinemia and jaundice occur with normal LFTs? - ANSWER: Dubin-Johnson
syndrome and Rotor syndrome.
Pediatrics 27th Edition by Maya Bunik; William W. Hay
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%.
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.
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.
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.
What are the current clinical trials for Crigler-Najjar syndrome? - ANSWER: Adeno-
associated virus vector-mediated gene therapy and mesenchymal stem cell therapy.
, What is the milder form of Crigler-Najjar syndrome? - ANSWER: Type 2.
How is the milder form of Crigler-Najjar syndrome inherited? - ANSWER: Both
autosomal dominant and recessive.
Are neurologic complications common in the milder form of Crigler-Najjar
syndrome? - ANSWER: Rarely.
How does hyperbilirubinemia in the milder form of Crigler-Najjar syndrome compare
to the severe form? - ANSWER: Less severe.
What is the response to phenobarbital treatment in the milder form of Crigler-Najjar
syndrome? - ANSWER: Lowering of serum bilirubin levels.
Are liver biopsy findings and liver function tests normal in both types of Crigler-Najjar
syndrome? - ANSWER: Yes.
What is drug-induced hyperbilirubinemia? - ANSWER: Elevation of bilirubin levels
caused by certain medications.
Which medication can elevate indirect bilirubin levels by causing hemolysis? -
ANSWER: Vitamin K3 (menadiol).
Which medication can be safely used in neonates to prevent hyperbilirubinemia? -
ANSWER: Vitamin K1 (phytonadione).
Which medication can cause conjugated hyperbilirubinemia in infancy? - ANSWER:
Carbamazepine.
Which medications may cause unconjugated hyperbilirubinemia? - ANSWER:
Rifampin and antiretroviral protease inhibitors (PIs; atazanavir).
Which drugs have been implicated in causing neonatal jaundice? - ANSWER:
Pancuronium bromide and chloral hydrate.
Which drugs may displace bilirubin from albumin, increasing the risk of kernicterus? -
ANSWER: Ceftriaxone and sulfonamides.
What is conjugated noncholestatic hyperbilirubinemia? - ANSWER: A condition
characterized by elevated conjugated bilirubin levels.
What are the two types of conjugated noncholestatic hyperbilirubinemia? -
ANSWER: Dubin-Johnson Syndrome and Rotor Syndrome.
What are the suspected diagnoses when persistent or recurrent conjugated
hyperbilirubinemia and jaundice occur with normal LFTs? - ANSWER: Dubin-Johnson
syndrome and Rotor syndrome.
