Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

Abstract

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.

Diagnosis and management of benign recurrent intrahepatic cholestasis and psychosocial stressors in an adolescent: A case report

“…Intrahepatic cholestasis is characterized by impaired bile flow and the accumulation of bile components within the liver, presenting a multifaceted condition[ 2 ]. The clinical presentation of this disorder is closely linked to genetic anomalies, especially in genes responsible for bile acid transport and regulation[ 2 ]. Despite being considered a benign genetic disorder, a comprehensive understanding of the etiology of BRIC is still lacking.…”

“…Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disorder characterized by intense pruritus, elevated levels of serum alkaline phosphatase (ALP), and bilirubin, alongside near-normal -glutamyl transferase (GGT)[ 1 , 2 ]. Episodes may last from weeks to months, resolving spontaneously, while patients remain asymptomatic between occurrences for extended periods[ 1 , 2 ]. In contrast to progressive liver injuries, BRIC is primarily attributed to genetic mutations[ 1 ].…”