Recent advances in the diagnosis and treatment of pediatric genetic cholestasis

VernacularTitle:儿科遗传性胆汁淤积症诊断与治疗新进展
Author: Yuanzong SONG
Keywords: Cholestasis; Citrin deficiency; Mitochondrial DNA depletion syndrome; Microvillus inclusion disease; Sodium taurocholate cotransporting polypeptide deficiency
From: Chinese Journal of Applied Clinical Pediatrics 2017;32(8):561-565
CountryChina
Language:Chinese
Abstract: Cholestasis is defined as a conjugated bilirubin level >1 mg/dL(17.1 μmol/L)if total serum bilirubin is ≤5 mg/dL(85.5 μmol/L),or conjugated bilirubin fraction >20％of total bilirubin when the total bilirubin is >5 mg/dL(85.5 μmol/L).In the recent years,the diagnosis and management of genetic cholestasis have caused considerable attention in the pediatric world,in pace with the development,maturation,and clinical application of the theories and techniques in genomics as well as molecular genetics.With a diversity of causative genes,genetic cholestasis usually demonstrates nonpathognomonic clinical manifestations.The etiology diagnosis such a disease relies on genetic tests,the treatment is often difficult,and the prognosis varies disparately,usually causing tremendous pain and burden on the affected patient and the family as well.Taking citrin deficiency,mitochondrial DNA depletion syndrome,microvi-llus inclusion disease and sodium taurocholate cotransporting polypeptide deficiency as samples,the recent advances in the diagnosis and treatment of genetic cholestasis are addressed.