Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump.

[benign recurrent intrahepatic cholestasis]

A young patient with recurrent attacks of intrahepatic cholestasis is described . On the basis of clinical presentation , laboratory findings and genetic analysis , the diagnosis of benign recurrent intrahepatic cholestasis type 2 (BRIC -2 ) was established . By the use of BSEP-specific antibodies , almost complete absence of BSEP from the canalicular membrane of liver cells was detected in the patient . Two different BSEP mutations were found . One mutation (E 186 G ) had been described in one BRIC -2 case ; the second mutation (V 444 A ) is more frequent and has been linked to intrahepatic cholestasis of pregnancy . It is concluded that this form of compound heterozygosity of the BSEP gene reduces the amount of BSEP protein due to protein instability or mis-targeting , which is the underlying reason for reduced bile salt excretion and cholemia .

Diseases
Validation

Diseases presenting "intrahepatic cholestasis" symptom

benign recurrent intrahepatic cholestasis

zellweger syndrome

This symptom has already been validated