Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders of bile acids metabolism. Due to the existence of a variety of gene mutations, the clinical manifestations of children are also diverse. There is no unified standard for diagnosis and single detection method, which seriously hinders the development of clinical treatment. Therefore, the mutated genes of hereditary intrahepatic cholestasis were systematically described in this review.

Automated summary

Hereditary cholestatic liver disease, caused by autosomal gene mutations, leads to jaundice and disruptions in bile acid metabolism. The clinical manifestations in children vary due to different gene mutations. Lack of a unified diagnostic standard and single detection method hampers clinical treatment development. Therefore, this review systematically describes the mutated genes of hereditary intrahepatic cholestasis.