Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France.
Hepatology. 2017 Jan;65(1):164-173. doi: 10.1002/hep.28779. Epub 2016 Oct 5.
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease.
These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164-173).
部分肌球蛋白 5B（MYO5B）突变导致微绒毛包涵病的患者可能发生以进行性家族性肝内胆汁淤积样表型为特征的胆汁淤积，其血清γ-谷氨酰转移酶活性正常。迄今为止，在无肠道疾病的情况下，具有这种胆汁淤积表型的患者中尚未报道 MYO5B 缺乏症。采用新一代测序方法，我们在 5 例具有正常血清γ-谷氨酰转移酶活性而无肠道疾病的进行性家族性肝内胆汁淤积样表型患者中鉴定出 MYO5B 突变。
这些数据表明 MYO5B 缺乏可能导致孤立性胆汁淤积症，并且应该将 MYO5B 视为另一种进行性家族性肝内胆汁淤积症基因。（Hepatology 2017;65:164-173）。
Zotero 插件