Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) and benign recurrent intrahepatic cholestasis (BRIC ) are hereditary liver disorders ; PFIC is characterized by severe progressive liver disease whereas BRIC patients have intermittent attacks of cholestasis without permanent liver damage . Mutations in ATP 8 B 1 are present in PFIC type 1 and in a subset of BRIC patients . We hypothesized that a genetically distinct form of BRIC is associated with mutations in ABCB 11 . This gene encodes the bile salt export pump (BSEP ) and is mutated in PFIC type 2 .Patients from 20 families were included ; all had a normal ATP 8 B 1 sequence . Sequencing of all 27 coding exons including the splice junctions of ABCB 11 revealed 8 distinct mutations in 11 patients from 8 different families : one homozygous missense mutation (E 297 G ) previously described in PFIC 2 patients , 6 novel missense mutations , and one putative splice site mutation .In 12 families , no mutations in ATB 8 B 1 or ABCB 11 were detected . Pancreatitis is a known extrahepatic symptom in BRIC caused by ATP 8 B 1 mutations , but was not present in BRIC patients with mutations in ABCB 11 . In contrast , cholelithiasis was observed in 7 of 11 BRIC patients with mutations in ABCB 11 , but has not been described in ATP 8 B 1 -affected BRIC patients .Mutations in ABCB 11 are associated with BRIC , and consistent with the genetic classification of PFIC into 2 subtypes , we propose that this disorder be named BRIC type 2 .

Diseases
Validation

Diseases presenting "pancreatitis" symptom

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

cholangiocarcinoma

cystinuria

dracunculiasis

familial hypocalciuric hypercalcemia

scrub typhus

systemic capillary leak syndrome

This symptom has already been validated