MRP2 transpoer defect leads to development of?: (A) Menke's disease, (B) Dubin Johnson syndrome, (C) Familial intrahepatic cholestasis, (D) Benign recurrent intrahepatic cholestasis
Answer is B. 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.