Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) and benign recurrent intrahepatic cholestasis (BRIC ) are two rare autosomal recessive disorders , characterized by cholestasis . They are related to mutations in hepatocellular transport system genes involved in bile formation . The differentiation between PFIC and BRIC is based on phenotypic presentation : PFIC is a progressive disease , with evolution to end-stage liver disease . BRIC is characterized by intermittent recurrent cholestatic episodes , with irresistible pruritus , mostly without evident liver damage . Between symptomatic periods , patients are completely asymptomatic . In this article , a short overview of the aetiology , the clinical and diagnostic characteristics and the therapy of both PFIC and BRIC are given .

Diseases
Validation

Diseases presenting "progressive disease" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

benign recurrent intrahepatic cholestasis

cadasil

cutaneous mastocytosis

dedifferentiated liposarcoma

erdheim-chester disease

inclusion body myositis

lymphangioleiomyomatosis

pleomorphic liposarcoma

severe combined immunodeficiency

waldenström macroglobulinemia

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