Familial cholestatic diseases exhibit familial patterns of occurrence and result from known or presumed gene defects. Until recently, these diseases were all considered syndromes, with recognizable patterns of clinical characteristics. Moreover, little was know about the molecular pathophysiology of cholestasis in general, and nothing was known about any of these diseases. The recent discovery and characterization of the genes involved in five of these diseases has led to improved understanding of the diseases and of the physiologic function and importance of the gene products. Furthermore, as has happened many times in the past, these patients with genetic disease have served as human models of disease pathophysiology. Study of the course of the disease in these patients has rapidly increased our understanding of the molecular mechanisms of bile formation, cholestasis, and liver injury caused by cholestasis.
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