先天性无痛无汗症1例报道并文献复习
Congenital Insensitivity to Pain with Anhidrosis: A Case Report and Literature Review
摘要: 目的：探讨先天性无痛无汗证的临床特征及反复运动系统并发症的诊疗方法。方法：回顾性分析一例先天性无痛无汗症患儿的临床资料及检查结果，并复习相关文献。结果：患儿，女，6岁5月，皮肤皲裂，甲床残缺，反复骨折伴关节肿胀，临床诊断为先天性无痛无汗症。结论：先天性无痛无汗证的临床表现多样，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。
Abstract: Objective: To investigate the clinical features of congenital insensitivity to pain with anhidrosis and the diagnosis and treatment of recurrent motor system complications. Methods: The clinical data and examination results of a case of congenital insensitivity to pain with anhidrosis were retrospectively analyzed, and the related literature was reviewed. Results: The patient, female, 6 years old and 5 months old, had chapped skin, incomplete nail bed, repeated fractures with joint swelling, and was clinically diagnosed as congenital insensitivity to pain with anhidrosis. Conclusion: The clinical manifestations of congenital insensitivity to pain with anhidrosis are varied, and there is no cure at present. Prevention and treatment of complications is the main means to improve the survival rate of patients.
文章引用：陈国艳. 先天性无痛无汗症1例报道并文献复习[J]. 临床医学进展, 2024, 14(9): 236-241. https://doi.org/10.12677/acm.2024.1492453

参考文献

[1] Schwartzlow, C. and Kazamel, M. (2019) Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification. Current Neurology and Neuroscience Reports, 19, Article No. 52. [Google Scholar] [CrossRef] [PubMed]
[2] Dyck, P.J., Mellinger, J.F., Reagan, T.J., Horowitz, S.J., Mcdonald, J.W., Litchy, W.J., et al. (1983) Not “Indifference to Pain” but Varieties of Hereditary Sensory and Autonomic Neuropathy. Brain, 106, 373-390. [Google Scholar] [CrossRef] [PubMed]
[3] 刘世祺, 吴琳, 张保贵, 靳猛, 郭东立. 先天性无痛无汗症研究进展[J]. 中国继续医学教育, 2017, 9(17): 157-159.
[4] 李立君, 代瑞玲, 薄铭宇, 等. 1例先天性无痛无汗症合并跟骨骨折患儿的护理[J]. 齐齐哈尔医学院学报, 2024, 45(6): 598-600.
[5] 顾立达, 肖曼琳, 瞿承亮. 先天性无痛无汗症1例报告[J]. 临床儿科杂志, 1984(4): 255.
[6] Tomlinson, R.E., Li, Z., Zhang, Q., Goh, B.C., Li, Z., Thorek, D.L.J., et al. (2016) NGF-TrkA Signaling by Sensory Nerves Coordinates the Vascularization and Ossification of Developing Endochondral Bone. Cell Reports, 16, 2723-2735. [Google Scholar] [CrossRef] [PubMed]
[7] Zhang, Y. and Haga, N. (2014) Skeletal Complications in Congenital Insensitivity to Pain with Anhidrosis: A Case Series of 14 Patients and Review of Articles Published in Japanese. Journal of Orthopaedic Science, 19, 827-831. [Google Scholar] [CrossRef] [PubMed]
[8] 王庆利, 胡光俊, 谈世刚, 宋晓阳. 无痛无汗症患儿骨骼损伤临床特征分析[J]. 临床儿科杂志, 2019, 37(3): 200-202.
[9] 陈文建, 白传卿, 孙军. 以早发、反复骨折为主要表现的先天性无痛无汗症患者的临床特点分析[J]. 中国保健营养, 2017, 27(12): 84-85.
[10] Tomlinson, R.E., Li, Z., Li, Z., Minichiello, L., Riddle, R.C., Venkatesan, A., et al. (2017) NGF-TrkA Signaling in Sensory Nerves Is Required for Skeletal Adaptation to Mechanical Loads in Mice. Proceedings of the National Academy of Sciences, 114, E3632-E3641. [Google Scholar] [CrossRef] [PubMed]
[11] 李宁波. 中国汉族先天性无痛无汗症患者临床表型与基因型分析及感觉神经功能研究[D]: [博士学位论文]. 武汉: 华中科技大学, 2020.
[12] 窦银聪, 葛英辉, 李国艳, 岳瑞杰, 郭侨阁. 11例先天性无痛无汗症的骨关节病影像学分析[J]. 临床放射学杂志, 2013, 32(2): 246-250.
[13] 李立君, 代瑞玲, 薄铭宇, 袁晓倩, 王莹. 1例先天性无痛无汗症合并跟骨骨折患儿的护理[J]. 齐齐哈尔医学院学报, 2024, 45(6): 598-601.
[14] 李世伟, 杨晓东, 唐学阳. 先天性无痛无汗症反复运动系统并发症1例[J]. 山西医科大学学报, 2023, 54(7): 1016-1018.
[15] 李伟强, 郭跃明, 汪启筹, 马洪, 郭剑. 先天性无痛无汗症并发习惯性髋关节脱位1例[J]. 中国骨伤, 2010, 23(5): 388-389.
[16] 李璐璐, 孔元原. 先天性无痛无汗症最新研究进展[J]. 中国优生与遗传杂志, 2021, 29(12): 1796-1798.
[17] 张咪. 肠道菌群多样性变化与先天性无痛无汗症的相关性研究[D]: [博士学位论文]. 武汉: 华中科技大学, 2022.

为你推荐