| 豆君,封其华,程江,等.误诊为幼年型特发性关节炎的先天性无痛无汗症 1例[J].安徽医药,2023,27(1):113-116. |
| 误诊为幼年型特发性关节炎的先天性无痛无汗症 1例 |
| A case report of congenital insensitivity to pain with anhidrosis misdiagnosed as juvenile idiopathic arthritis |
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| DOI：10.3969/j.issn.1009-6469.2023.01.025 |
| 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 幼年型特发性关节炎 误诊 |
| 英文关键词: Hereditary sensory and autonomic neuropathies Congenital insensitivity to pain with anhidrosis Juvenile idiopathic arthritis Misdiagnosis |
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| 中文摘要: |
| 目的分析 1例以反复关节部位肿胀为主要表现并误诊为幼年型特发性关节炎( JIA)的先天性无痛无汗症( CIPA)病人的临床诊治经过，以提高对该疾病的认识。方法回顾苏州大学附属儿童医院收治的 1例病儿 2018年 6月至 2019年 7月的临床与实验室检查资料，查阅 CIPA相关文献，分析该病例误诊的原因，并进行 CIPA的文献总结。结果该例病儿以反复关节部位肿胀起病，初误诊为 JIA，但相应治疗效果不佳，最终结合既往病史与详细的体格检查以及影像学表现等，经全外显子测序明确为 CIPA，CIPA延迟诊断并误诊为 JIA的主要原因包括:对 CIPA认识不足，未能把握 JIA诊断的排除性特征，采集病史不详细，体格检查未重视痛觉的不敏感等。结论对临床特征不符合典型 JIA的病儿，特别是既往长期低热、少汗，体格检查发现痛觉不敏感甚至缺失的病儿，要考虑到先天性无痛无汗症的可能，及时进行基因测序有助于进一步明确诊断，以避免误诊误治。 |
| 英文摘要: |
| Objective To analyze the clinical course especially the diagnosis and treatment of a patient with Congenital Insensitivityto Pain with Anhidrosis (CIPA), whose main manifestation was recurrent joint swelling and misdiagnosed as Juvenile Idiopathic Arthritis (JIA), hence enhance the awareness of this rare disease.Methods Review the clinical and laboratory examination data of a patientadmitted to the Children′s Hospital of Soochow University from June 2018 to July 2019 and CIPA literature were also reviewed andsummarized to examine the reason of misdiagnosis.Results This patient was characterized by repeated joint swelling and was misdiagnosed as JIA at first, but the treatment effect was not good. Combined with previous medical history, detailed physical examination, imaging findings and whole exome sequencing, CIPA was confirmed finally by total exon sequencing. The principal reason for delayed diagnosis with CIPA and misdiagnosis as JIA include unawareness of CIPA, failure to grasp the exclusion feature in JIA diagnosis, insufficient history collection, and no paying attention to pain insensitivity on physical examination.Conclusion For patients who do not fulfill typical JIA, especially those with prolonged low grade fever, hyphidrosis, and pain insensitivity even absence, CIPA should be suspected, timely gene sequencing is helpful in confirming the diagnosis to avoid misdiagnosis and mistreatment. |
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