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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.

DOI:10.1002/ccr3.70697
PMID:40735709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12303841/
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/f2e1fd675845/CCR3-13-e70697-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/36fff261edeb/CCR3-13-e70697-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/1c49362e37d7/CCR3-13-e70697-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/f2e1fd675845/CCR3-13-e70697-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/36fff261edeb/CCR3-13-e70697-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/1c49362e37d7/CCR3-13-e70697-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3a/12303841/f2e1fd675845/CCR3-13-e70697-g001.jpg

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本文引用的文献

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A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.一种与先天性无痛症、无汗症和轻度认知障碍相关的 SCN9A 基因突变。
Pediatr Dermatol. 2024 Jan-Feb;41(1):80-83. doi: 10.1111/pde.15366. Epub 2023 Jun 22.
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Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.遗传性感觉自主神经病 IID 型，由 SCN9A 突变引起。
Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd. Epub 2013 Apr 17.
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Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases.
先天性无痛觉与无汗症（CIPA）综合征；4例报告
Iran J Pediatr. 2012 Sep;22(3):412-6.
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Hereditary sensory and autonomic neuropathies: types II, III, and IV.遗传性感觉和自主神经病：II型、III型和IV型。
Orphanet J Rare Dis. 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39.
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An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Pediatrics. 2003 Sep;112(3 Pt 1):e237-41. doi: 10.1542/peds.112.3.e237.
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Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.先天性无痛无汗症（CIPA）或遗传性感觉和自主神经病变IV型的遗传学。编码神经生长因子受体酪氨酸激酶的TRKA（NTRK1）基因突变的临床、生物学及分子学特征。
Clin Auton Res. 2002 May;12 Suppl 1:I20-32. doi: 10.1007/s102860200016.
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Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs.
Clin Auton Res. 2002 May;12 Suppl 1:I2-14. doi: 10.1007/s102860200014.
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Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.以色列贝都因人中的先天性无痛觉伴无汗症（CIPA）：遗传异质性、TRKA/NGF受体基因的新突变、临床发现及神经传导研究结果
Am J Med Genet. 2000 Jun 19;92(5):353-60. doi: 10.1002/1096-8628(20000619)92:5<353::aid-ajmg12>3.0.co;2-c.
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Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations.先天性无痛觉伴无汗症：眼部及全身表现
Am J Ophthalmol. 1999 Mar;127(3):322-6. doi: 10.1016/s0002-9394(98)00370-5.
10
Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis.遗传性感觉和自主神经病变IV型的口腔表现。先天性无痛觉伴无汗症。
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998 Oct;86(4):425-31. doi: 10.1016/s1079-2104(98)90368-7.