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.
作者
黄云
姚炳华
张春红
HUANG Yun;YAO Bing-hua;ZHANG Chun-hong(Taizhou People's Hospital,Taizhou Jiangsu 225300,China)
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
