医学
转甲状腺素
多发性神经病
病理
心肌病
淀粉样蛋白(真菌学)
中国家庭
内科学
基因
遗传学
心力衰竭
生物
作者
Yanfeng Li,Hou Ng,U Iok Sun,Waii Leong
出处
期刊:Chinese Medical Sciences Journal
[Chinese Medical Sciences Journal]
日期:2008-12-01
卷期号:23 (4): 230-233
被引量:8
标识
DOI:10.1016/s1001-9294(09)60044-4
摘要
To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Three families of suspected FAP in China mainland and Macau were investigated on aspects of clinical manifestations, histological features, and gene analysis. All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.
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