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。
Objective To analyze the clinical course especially the diagnosis and treatment of a patient with Congenital Insensitivity to Pain with Anhidrosis(CIPA),whose main manifestation was recurrent joint swelling and misdiagnosed as Juvenile Idiopathic Arthri‐tis(JIA),hence enhance the awareness of this rare disease.Methods Review the clinical and laboratory examination data of a patient admitted to the Children's Hospital of Soochow University from June 2018 to July 2019 and CIPA literature were also reviewed and summarized to examine the reason of misdiagnosis.Results This patient was characterized by repeated joint swelling and was misdiag‐nosed as JIA at first,but the treatment effect was not good.Combined with previous medical history,detailed physical examination,im‐aging findings and whole exome sequencing,CIPA was confirmed finally by total exon sequencing.The principal reason for delayed di‐agnosis with CIPA and misdiagnosis as JIA include unawareness of CIPA,failure to grasp the exclusion feature in JIA diagnosis,insuffi‐cient history collection,and no paying attention to pain insensitivity on physical examination.Conclusion For patients who do not ful‐fill typical JIA,especially those with prolonged low grade fever,hyphidrosis,and pain insensitivity even absence,CIPA should be sus‐pected,timely gene sequencing is helpful in confirming the diagnosis to avoid misdiagnosis and mistreatment.
作者
豆君
封其华
程江
鱼敏逸
苏徽
宋晓翔
DOU Jun;FENG Qihua;CHENG Jiang;YU Minyi;SU Hui;SONG Xiaoxiang(Department of Rheumatology,Children's Hospital of Soochow University,Suzhou,Jiangsu 215000,China)
出处
《安徽医药》
CAS
2023年第1期113-116,共4页
Anhui Medical and Pharmaceutical Journal
基金
苏州市科技发展计划(民生科技)项目(SYS2018065)。
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
Hereditary sensory and autonomic neuropathies
Congenital insensitivity to pain with anhidrosis
Juvenile idiopathic arthritis
Misdiagnosis
