先天性无痛无汗症1例并文献复习

doi:10.3969/j.issn.1004-583X.2023.01.009

临床荟萃 ›› 2023, Vol. 38 ›› Issue (1): 64-67.doi: 10.3969/j.issn.1004-583X.2023.01.009

先天性无痛无汗症1例并文献复习

庞姝^a, 张铭凯^b, 白红梅^a, 吴咏冬^c()

a.首都医科大学附属北京友谊医院全科医疗科,北京 100050
b.首都医科大学附属北京友谊医院神经内科,北京 100050
c.首都医科大学附属北京友谊医院消化内科,北京 100050

收稿日期:2022-10-17 出版日期:2023-01-20 发布日期:2023-03-03
通讯作者: 吴咏冬 E-mail:wuyongdong2018@sina.com

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

Pang Shu^a, Zhang Mingkai^b, Bai Hongmei^a, Wu Yongdong^c()

a. Department of General Practice, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China
b. Department of Neurology, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China
c. Department of Gastroenterology, Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China

Received:2022-10-17 Online:2023-01-20 Published:2023-03-03
Contact: Wu Yongdong E-mail:wuyongdong2018@sina.com

摘要/Abstract

摘要：

目的探讨先天性无痛无汗症的临床特点及诊疗方法。方法回顾性分析1例先天性无痛无汗症患者的临床资料及基因检测结果,并复习相关文献。结果患儿,女,10岁,皮肤粗糙、反复骨折伴左膝关节肿胀3年。临床特点为皮肤粗糙、对痛觉不敏感、口腔溃疡、指(趾)甲缺如、左膝夏科关节、左膝轻度外翻、反复摔伤骨折、反复发热。基因测序结果提示患儿为 $N T R K 1$ 基因C.575-19G>A纯合变异。诊断为先天性无痛无汗症。结论先天性无痛无汗症临床表现多样,目前尚无根治方法,防治并发症是提高患者生存率的主要手段。

关键词: 遗传性感觉和自主神经性神经病, $N T R K 1$ 基因, 基因检测

Abstract:

Objective To investigate the clinical characteristics, diagnosis and treatment of congenital insensitivity to pain with anhidrosis. Methods The clinical data and gene detection results of a patient with congenital insensitivity to pain with anhidrosis in our hospital was analyzed retrospectively. The related literature were reviewed and summarized. Results A 10-year-old female patient had rough skin, repeated fractures and swelling of the left knee joint for 3 years. The clinical features are rough skin, insensitivity to pain, oral ulcer, absence of finger (toe) nail, Charcot joint of left knee, slight valgus of left knee, repeated falls and fractures, and repeated fever. The results of gene sequencing indicated that the patient had a homozygous variation of C.575-19G>A of NTRK1 gene. She was diagnosed as congenital insensitivity to pain with anhidrosis. Conclusion There are various clinical manifestations of congenital insensitivity to pain with anhidrosis, and there is no radical cure. Prevention and treatment of complications is the main method to improve the survival rate of these patients.

Key words: hereditary sensory and autonomic neuropathies, $N T R K 1$ gene, genetic testing

中图分类号:

R741

庞姝, 张铭凯, 白红梅, 吴咏冬. 先天性无痛无汗症1例并文献复习[J]. 临床荟萃, 2023, 38(1): 64-67.

Pang Shu, Zhang Mingkai, Bai Hongmei, Wu Yongdong. Congenital insensitivity to pain with anhidrosis: A case report and literature review[J]. Clinical Focus, 2023, 38(1): 64-67.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2023.01.009

https://huicui.hebmu.edu.cn/CN/Y2023/V38/I1/64

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参考文献 12

[1]	Indo Y. NTRK1 congenital insensitivity to pain with anhidrosis[EB/OL]. https://www.ncbi.nlm.nih.gov/bocks/NBK1769/, 2022-04-30.
[2]	Geng X, Liu Y, Ren X, et al. Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis[J]. Molecular Pain, 2018, 14: 1744806918781140.
[3]	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. doi: 10.1038/gim.2015.30 pmid: 25741868
[4]	Masri A, Shboul M, Khasawneh A, et al. Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan[J]. Clin Neurol Neurosurg, 2020, 189: 105636. doi: 10.1016/j.clineuro.2019.105636 URL
[5]	Indo Y. NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis[J]. Neurosci Biobehav Rev, 2018, 87:1-16. doi: S0149-7634(17)30712-1 pmid: 29407522
[6]	Qiu Y, Zhao L, Yao D, et al. Anesthetic management of children with congenital insensitivity to pain with anhidrosis[J]. Pediatr Investig, 2020, 4(4): 296-298. doi: 10.1002/ped4.12152 URL
[7]	Agarwalla SK, Satapathy J. Lesch-Nyhan syndrome: Case brief of a rare disease[J]. Int J Res Med Sci, 2018, 6(11): 3752. doi: 10.18203/2320-6012.ijrms20184443 URL
[8]	Li N, Guo S, Wang Q, et al. Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis[J]. J Pain Res, 2019, 12: 453-465. doi: 10.2147/JPR.S188566 URL
[9]	Liu Z, Liu J, Liu G, et al. Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review[J]. J Int Med Res, 2018, 46(6): 2445-2457. doi: 10.1177/0300060517747164 pmid: 29619836
[10]	Dyck PJ, Mellinger JF, Reagan TJ, et al. Not ‘indifference to pain’ but varieties of hereditary sensory and autonomic neuropathy[J]. Brain, 1983, 106(Pt 2): 373-390. doi: 10.1093/brain/106.2.373 URL
[11]	Hartono F, Tanjung C, E Besinga K, et al. Catastrophic results due to unrecognizing of congenital insensitivity to pain with anhidrosis in children with multiple long bones fractures: A case report of 27 years follow-up of two siblings[J]. Int J Surg Case Rep, 2020, 73: 213-217. doi: 10.1016/j.ijscr.2020.07.010 URL
[12]	Zhang M, Hong Y, Wu W, et al. Pivotal role of the gut microbiota in congenital insensitivity to pain with anhidrosis[J]. Psychopharmacology(Berl), 2021, 238(11):3131-3142. doi: 10.1007/s00213-021-05930-8 URL

先天性无痛无汗症1例并文献复习

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

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