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Medicine Hereditary Hyperbilirubinemia & Jaundice 53c41481

MRP2 transpoer defect leads to development of?

A
Menke's disease
B
Dubin Johnson syndrome
C
Familial intrahepatic cholestasis
D
Benign recurrent intrahepatic cholestasis
High-Yield Explanation
MRP2 defect: Multidrug resistance-associated protein 2 (MRP2), an ATP-dependent canalicular membrane transpoer. It is defective in Dubin Johnson syndrome. This protein is encoded by gene known as ABCC2 Gene which is mutated. Dubin Johnson syndrome- It is an autosomal recessive disorder occurs due to defect in MRP-2 protein. kernicterus is absent , with liver biopsy showing black pigmentation. Mild jaundice is seen with normal bile acids level.

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