Hyperbilirubin Flashcards
(23 cards)
What is Hereditary Hyperbilirubinemia?
A condition characterized by hemolysis and the production of unconjugated bilirubin, which can cross the blood-brain barrier causing kernicterus/bilirubin encephalopathy.
How is unconjugated bilirubin normally transported?
It binds to plasma proteins and does not cause encephalopathy.
What is Gilbert Syndrome?
A hereditary condition with UDPGT activity of 10-30%, leading to fluctuating/increased levels of unconjugated bilirubin.
What are the genetic mutations associated with Gilbert Syndrome?
Promoter molecule mutation (Autosomal Recessive) and Missense Mutation (Autosomal Dominant).
What can cause increased levels of unconjugated bilirubin in Gilbert Syndrome?
Stress, medications, and fasting.
What is Crigler Najjar Syndrome?
A condition leading to kernicterus due to complete absence or profound reduction of UDP-glucuronosyltransferase enzyme activity.
What are the clinical features of Crigler Najjar Syndrome?
Pathological jaundice in neonates, opisthotonus, seizures, and delayed milestones.
What is Dubin Johnson Syndrome?
A genetic condition caused by a defect in the ABCC-2 gene leading to obstructive jaundice and increased conjugated bilirubin.
What are the clinical features of Dubin Johnson Syndrome?
Obstructive jaundice without pruritus, increased conjugated bilirubin, and icterus after pregnancy or stress.
What is the investigation of choice for Dubin Johnson Syndrome?
Bromsulphalein (BSP) Test, which shows regurgitation of BSP back into the bloodstream due to MRP-2 defect.
What does the urine total coproporphyrin value indicate in Dubin Johnson Syndrome?
Normal total coproporphyrin value but a changed ratio of Coproporphyrin III to I. In DJS I>III
What is the relationship between Coproporphyrin I and III in DJS?
Values of Coproporphyrin I are greater than those of Coproporphyrin III.
I > III
What is the result of oral cholecystography in DJS?
The gall bladder is not visualized.
What causes the black liver in DJS?
Accumulation of metabolites of epinephrine.
What is Rotor Syndrome?
A condition characterized by autosomal recessive inheritance and a defect in OATP B.
What is the inheritance pattern of Rotor Syndrome?
Autosomal Recessive.
What is the defect associated with Rotor Syndrome?
Defect in OATP B, which is an organic anion transport protein.
What is the liver color and echotexture in Rotor Syndrome?
Liver color is normal and echotexture remains normal.
Can the gall bladder be visualized in Rotor Syndrome?
Yes, because the cholecystography dye is excreted by MRP-2 and not by OATP B.
What is the urinary coproporphyrin level in Rotor Syndrome?
Total urinary coproporphyrin is significantly elevated.
What is the coproporphyrin I/III ratio in Rotor Syndrome?
The ratio is more, with I being greater than III.
I > III
