| 王晓宇,曹芳,罗明鑫,等.神经营养因子赖氨酸激酶受体 1型基因突变致先天性无痛无汗症 1例并文献复习[J].安徽医药,2024,28(2):383-386. |
| 神经营养因子赖氨酸激酶受体 1型基因突变致先天性无痛无汗症 1例并文献复习 |
| Congenital insensitivity to pain with anhidrosis induced by NTRK1 gene mutation:a case re. port and literature review |
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| DOI：10.3969/j.issn.1009-6469.2024.02.038 |
| 中文关键词: 遗传性感觉和自主神经性神经病 先天性无痛无汗症 罕见病 基因突变 神经营养因子赖氨酸激酶受体 1型 |
| 英文关键词: Hereditary sensory and autonomic neuropathies Congenital insensitivitv to pain with anhidrosis Rare diseases Genetic mutations Neurotrophic factor lysine kinase receptor type 1 |
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| 中文摘要: |
| 目的报告先天性无痛无汗症( CIPA)1例并文献复习，增加其病因及临床特点的了解，减少误诊误治。方法采集 2021年 12月安徽省儿童医院收治的病儿及其父母外周血进行医学全外显子组基因检测，并对候选基因变异进行 Sanger测序验证。结果基因分子遗传学分析结果提示病儿在神经营养因子赖氨酸激酶受体 1型( NTRK1)中存在 2个分别来自父母双方的杂合突变( c.575-19G>A和 c.444C>A)，结合病儿临床表现符合 CIPA。结论 CIPA为单基因遗传病，临床罕见，基因分子遗传学分析有助于诊断。 |
| 英文摘要: |
| Objective To report a case of congenital insensitivity to pain with anhidrosis (CIPA) and to review the literature to pro.mote the understanding of its etiology and clinical characteristics so as to reduce misdiagnosis and mistreatment.Methods The pe.ripheral blood of the patient admitted to Children's Hospital of Anhui Province in December 2021 and her parents was collected formedical whole-exome gene detection,and the candidate gene variants were verified by Sanger sequencing.Results The results of ge. netic and molecular genetic analysis showed that there were two heterozygous mutations (c.575-19G>A and c.444C>A) in the neuro.trophic factor lysine kinase receptor type 1 (NTRK1) of the infant respectively from both parents. The clinical manifestations of the pa.tient was consistent with CIPA.Conclusion CIPA is a monogenic disease, which is rare in clinics.Molecular genetics testing is helpful for its diagnosis. |
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