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先天性无痛觉伴无汗症:尼泊尔首例报告病例。

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal.

作者信息

Pant Sobin, Adhikari Dibij, Pandey Prakash, Bajracharya Binit, Sharma Rizuna

机构信息

Maharajgunj Medical Campus, Institute of Medicine Tribhuvan University Kathmandu Nepal.

Department of Pediatrics Tribhuvan University Teaching Hospital Kathmandu Nepal.

出版信息

Clin Case Rep. 2025 Jul 28;13(8):e70697. doi: 10.1002/ccr3.70697. eCollection 2025 Aug.

Abstract

Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self-mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource-limited settings. Early diagnosis and a multidisciplinary approach help prevent complications like severe injuries, infections, and hyperpyrexia.

摘要

先天性无痛觉伴无汗症是一种罕见的常染色体隐性疾病,其特征为无汗、自残行为以及对疼痛和温度不敏感。虽然基因检测可确诊,但并非总是可行,这使得在资源有限的环境中进行临床识别至关重要。早期诊断和多学科方法有助于预防严重损伤、感染和高热等并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/36fff261edeb/CCR3-13-e70697-g003.jpg

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