Diagnosis and treatment of hereditary cholestasis

Abstract

With China's outstanding achievements in the prevention and treatment of hepatitis, hereditary cholestasis caused by genetic variants has gradually become an important cause of death or transplantation in children with liver disease. The continuous identification of new pathogenic genes expands the disease spectrum and clinician's understanding of disease. The disease characteristics and clinical manifestations of hereditary cholestasis caused by different gene variants vary, and the severity of diseases caused by the same gene variants and the response to treatment are also significantly different. Therefore, early genetic diagnosis is of great value for improving the clinical management of patients. In terms of treatment, in addition to traditional drugs and surgery, targeted therapy and gene therapy are also gradually moving towards clinical application. Advances in metabolomics, gene editing technology, and structural biology have made it possible to provide personalized and precise treatment of children with hereditary cholestasis in the future; however, this which will put forward higher requirements for on relevant practitioners.