Jaundice Monograph Flashcards
What are the two broad syndromes of congenital unconjugated hyperbilirubinemic states? How are they inherited?
- Gilbert syndrome
- Crigler-Najjar syndrome
Inherited as autosomal recessive
What is wrong in Gilbert syndrome? When will the symptoms be seen?
Mildly decreased UDP-glucuronosyltransferase (UGT) conjugation activity
- > symptoms are seen during stress (i.e. illness or fasting)
- > usually asymptomatic and not clinically significant
What is the defect in Crigler-Najjar syndrome and what are its two subtypes?
Defect is absent UGT (think about how this sounds like a Disney villain)
Type I - both alleles knocked out
Type II - heterozygotes, will have milder disease as one UGT allele is functional
What are the clinical findings of Crigler-Najjar syndrome Type I?
Severe jaundice, kernicterus (deposition of bilirubin into brain) in neonates which is always fatal
How can Gilbert syndrome and Crigler-Najjar Type II be treated?
Treated via phenobarbital - upregulate liver enzyme synthesis via enzyme induction properties
-> improves symptoms if some working allele is still available
What are the two main types of familial conjugated hyperbilirubinemia? Will they have symptoms of cholestasis?
- Dubin-Johnson syndrome
- Rotor syndrome
Will not have symptoms of cholestasis since the problem is only with excretion of bilirubin and not any of the other components of bile.
What is wrong in Dubin-Johnson syndrome and what are the symptoms?
Conjugated hyperbilirubinemia due to defective bile canalicular transport of CB from hepatocytes
- > symptoms are benign, with elevated serum CB and slight hepatomegaly
- > Liver will also grossly appear black due to a melanotic pigment
How does the presentation of Rotor syndrome differ from Dubin-Johnson?
Rotor syndrome is in every way similar to Dubin-Johnson
-> Main difference: liver does not appear black, milder presentation
