Which one of the following inherited conditions causes direct hyperbilirubinemia?
Correct Answer: Rotor syndrome
Description: C. Rotor syndrome(Ref: Nelson's 20/e p 1937-1939)Disorders of bilirubin metabolismType of bilirubin elevatedDiseasesUnconjugated HyperbilirubinemiaCrigler-Najjar syndrome Types I and II (UDP GT gene mutation) Gilbert disease (UPD GT polymorphism)Conjugated HyperbilirubinemiaDubin-Johnson syndrome (multiple drug-resistant protein 2 mutation) Rotor syndrome (deficiency in organic anion uptake)Unlike Dubin-Johnson syndrome, in Rotor syndrome:Total urinary coproporphyrin excretion is elevated, with a relative increase in coproporphyrin I isomerGallbladder is normal by roentgenography and Liver cells contain no black pigment.
Category:
Pediatrics
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