Abstract: 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.

Key words:  , jaundice, pruritus, MYO5B gene

摘要： 对2021-03-29首都医科大学附属北京儿童医院1例因黄疸、瘙痒入院的MYO5B基因突变所致胆汁淤积性肝病患儿病例资料进行回顾性分析，以了解MYO5B基因突变的胆汁淤积表型，通过文献复习总结临床特点及治疗。结果发现，该例患儿为10月龄女性，以皮肤瘙痒、黄疸起病，偶伴大便发白，无胃肠道症状，查体肝脏肿大，总胆红素、直接胆红素升高，γ-谷氨酰基转移酶（GGT）正常，胆汁酸明显升高。丙氨酸氨基转移酶（ALT）升高。肝脏病理示肝细胞弥漫肿胀，肝窦轻度扩张，轻度窦周纤维化，细胞内胆淤及胆小管内胆栓形成，灶状淋巴细胞浸润，基因示MYO5B复合杂合突变 c.2254C>T（p.Q752X），c.1618A>C（p.K540Q），口服熊去氧胆酸胶囊、消胆胺效果欠佳，长期随访存在营养不良，无腹泻表现。由此得出，对于起病年龄稍晚的低GGT胆汁淤积患者，需注意MYO5B基因突变，在没有明显肠道疾病的情况下，更容易表现为单纯胆汁淤积。多药物治疗可好转，但如药物效果不佳，需考虑胆道分流术或肝移植。

关键词: 黄疸, 瘙痒, MYO5B基因