Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) type 1 , 2 and 3 are due to mutations in ATP 8 B 1 , ABCB 11 and ABCB 4 , respectively . Each of these genes encodes a hepatocanalicular transporter , which is essential for the proper formation of bile . Mutations in ABCB 4 can result in progressive cholestatic disease , while mutations in ATP 8 B 1 and ABCB 11 can result both in episodic cholestasis , referred to as benign recurrent intrahepatic cholestasis (BRIC ) type 1 and 2 , as well as in progressive cholestatic disease . This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP 8 B 1 deficiency and ABCB 11 deficiency . Similarly PFIC type 3 is designated as ABCB 4 deficiency . Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy . This review summarizes the pathophysiology , clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy .

Diseases
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Diseases presenting "abcb11 and abcb4" symptom

benign recurrent intrahepatic cholestasis

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