黄疸瘙痒为主要表现的MYO5B基因突变1例并文献复习OA北大核心CSTPCD

Retrospective analysis of a case with jaundice and pruritus caused by MYO5B gene mutation admitted to Beijing Children's Hospital in March 2021,To investigate the cholestasis phenotype of MYO5B gene mutation,Summarize clinical characteristics and treatment by literature review.Patient(girl)10-month-old presented with pruritus,jaundice,pale stool and liver swelling,without gastrointestinal symptom.Total and direct serum bilirubin elevated,normal gamma-glutamyltransferase(GGT)activity,a increase of transaminases,elevated total serum bile acid.Liver biopsies:swelling of liver cells,mild dilation of liver sinuses,mild perisinusoidal fibrosis,intracellular cholestasis,Biliary thrombus in bile duct,focal lymphocyte infiltration.MYO5B compound heterozygous mutation:c.2254C＞T(p.Q752X),c.1618A＞C(p.K540Q).Ursodeoxycholic acid and Cholestyramine were ineffective,Long term follow-up showed malnutrition and no signs of diarrhea.For patients with low GGT cholestatic symptoms developing in late infancy,attention should be paid to the MYO5B gene mutation,which can manifest as simple cholestasis without obvious gastrointestinal symptoms.If oral medications are poor effect,biliary diversion or liver transplantation should be considered.