一例婴儿致死性型肥大型肌原纤维肌病病例报道  

A Case Report of Fatal Infantile Hypertrophic Myofibrillar Myopathy

作　　者：黄云 姚炳华[1] 张春红[1] HUANG Yun;YAO Bing-hua;ZHANG Chun-hong(Taizhou People's Hospital,Taizhou Jiangsu 225300,China)

机构地区：[1]泰州市人民医院,江苏泰州225300

出　　处：《泰州职业技术学院学报》2021年第2期71-72,93,共3页Journal of Taizhou Polytechnic College

摘　　要：婴儿致死性肥大性肌原纤维肌病(Fatal infantile fattening myofibrillar myopathy)是肌原纤维肌病(Myofibrillar myopathy,MFM)的一种特殊亚型,是由于CRYAB基因突变引起的α-B-晶状体蛋白病。该病有其自身的临床特点,在儿童中极其罕见,复习国内外文献,迄今为止已被报道的文献资料共4篇,共计20例病例,笔者通过复习有关文献,旨在综合分析致命性婴儿型肥大型肌原纤维病例的临床特点,以提高儿科医生对该病的认识。Fatal hypertrophic myofibrillar myopathy(MFM) in infants is a special subtype of MFM, which is caused by mutation of CRYAB gene α-B-crystallinopathy. This disease has its own clinical characteristics. It is extremely rare in children. By reviewing the literature at home and abroad, it is found that up to now 4 papers have been reported, a total of 20 cases. The author aims to comprehensively analyze the clinical characteristics of fatal infantile hypertrophic myofibrillar disease, so as to improve the pediatrician’s understanding of this disease.

关 键 词：婴儿致死性肥大性肌原纤维肌病 CRYAB基因突变 α-B-晶状体蛋白 

分 类 号：R722.11[医药卫生—儿科]