先天性无痛无汗症1例并文献复习

报告2018年10月收治的1例先天性无痛无汗症，患者年龄32 d，采集患儿及其父母外周血进行医学外显子5 000种疾病筛查，并对候选基因变异进行Sanger测序验证。患儿主要临床表现为无痛、无汗、反复发热。基因分子遗传学分析结果提示在患儿遗传性感觉和自主神经病4型等疾病相关基因神经营养因子酪氨酸激酶受体1型(neurotrophictyrosine kinase receptor type 1，NTRK1)中存在复合杂合突变(c.36G>A和c.851-33T>A)。结果显示两个突变分别来自父母双方。c.851-33T>A为既往已报道致病突变，c.36G>A为未报道的突变，该突变可导致色氨酸转变成终止密码子。对于无明确致病报道的点突变，进一步参考美国医学遗传学和基因组学学院(ACMG)基因突变解读指南，评估其为致病基因，生物学危害性为可能有害。先天性无痛无汗症临床罕见，该病为单基因遗传病，基因分子遗传学分析有助于诊断及发现新的基因突变。

Congenital insensitivity to pain with anhidrosis: A case report and literature review

To analyze the clinical manifestations and gene mutations in children with congenitalinsensitivity to pain with anhidrosis (CIPA), and review related literature. An infant diagnosed withcongenital insensitivity to pain with anhidrosis was reported. Th e main clinical manifestations of theinfant were painless, no sweat, and repeated fever. Peripheral blood of the infant and his parents wascollected, and candidate variants were confi rmed by Sanger sequencing. Th e results of moleculargenetic analysis showed that there were compound heterozygous mutations (c.36G>A, c.851-33T>A) of neurotrophic tyrosine kinase receptor type 1 (NTRK1) in the infant. c.36G>A andc.851-33T>A were inherited from his father and mother, respectively. c.851-33T>A is a previouslyreported mutation, c.36G>A is an unreported mutation, which can lead to the tryptophan changinginto a stop codon. According to the American College of Medical Genetics and Genomics(ACMG) variant interpretation guidelines, the mutation is interpreted as pathogenic, and thebiological hazard is potentially harmful. Congenital insensitivity to pain with anhidrosis is a rareinherited disorder. Genetic molecular genetic analysis is helpful to diagnose and discover new genemutations.