{"title":"从荨麻疹到正确诊断：冷冻素相关周期性综合征1例报告。","authors":"Xue Wang, Nan Zhou, Yuxiang Zhi","doi":"10.2147/JAA.S509939","DOIUrl":null,"url":null,"abstract":"<p><p>Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder often misdiagnosed as urticaria or urticarial vasculitis, thereby delaying treatment for patients. This report presents a large CAPS pedigree. The proband was a 57-year-old man with recurrent urticaria-like rash, fever, and arthralgia for more than 50 years and hearing loss for 28 years. Sixteen of his relatives had similar symptoms. One-generation sequencing revealed a c.778C>T; p.(Arg260Trp) variant in the NLRP3 gene, confirming the diagnosis of CAPS. The aim of this case report is to raise awareness of CAPS and its various clinical manifestations, highlighting that urticaria may be a presentation of autoinflammatory diseases, thereby improving diagnostic accuracy.</p>","PeriodicalId":15079,"journal":{"name":"Journal of Asthma and Allergy","volume":"18 ","pages":"539-544"},"PeriodicalIF":3.0000,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11994075/pdf/","citationCount":"0","resultStr":"{\"title\":\"From Urticaria to Correct Diagnosis: A Case Report of Cryopyrin-Associated Periodic Syndromes.\",\"authors\":\"Xue Wang, Nan Zhou, Yuxiang Zhi\",\"doi\":\"10.2147/JAA.S509939\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder often misdiagnosed as urticaria or urticarial vasculitis, thereby delaying treatment for patients. This report presents a large CAPS pedigree. The proband was a 57-year-old man with recurrent urticaria-like rash, fever, and arthralgia for more than 50 years and hearing loss for 28 years. Sixteen of his relatives had similar symptoms. One-generation sequencing revealed a c.778C>T; p.(Arg260Trp) variant in the NLRP3 gene, confirming the diagnosis of CAPS. The aim of this case report is to raise awareness of CAPS and its various clinical manifestations, highlighting that urticaria may be a presentation of autoinflammatory diseases, thereby improving diagnostic accuracy.</p>\",\"PeriodicalId\":15079,\"journal\":{\"name\":\"Journal of Asthma and Allergy\",\"volume\":\"18 \",\"pages\":\"539-544\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2025-04-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11994075/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Asthma and Allergy\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2147/JAA.S509939\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Asthma and Allergy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/JAA.S509939","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"ALLERGY","Score":null,"Total":0}
From Urticaria to Correct Diagnosis: A Case Report of Cryopyrin-Associated Periodic Syndromes.
Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder often misdiagnosed as urticaria or urticarial vasculitis, thereby delaying treatment for patients. This report presents a large CAPS pedigree. The proband was a 57-year-old man with recurrent urticaria-like rash, fever, and arthralgia for more than 50 years and hearing loss for 28 years. Sixteen of his relatives had similar symptoms. One-generation sequencing revealed a c.778C>T; p.(Arg260Trp) variant in the NLRP3 gene, confirming the diagnosis of CAPS. The aim of this case report is to raise awareness of CAPS and its various clinical manifestations, highlighting that urticaria may be a presentation of autoinflammatory diseases, thereby improving diagnostic accuracy.
期刊介绍：
An international, peer-reviewed journal publishing original research, reports, editorials and commentaries on the following topics: Asthma; Pulmonary physiology; Asthma related clinical health; Clinical immunology and the immunological basis of disease; Pharmacological interventions and new therapies.
Although the main focus of the journal will be to publish research and clinical results in humans, preclinical, animal and in vitro studies will be published where they shed light on disease processes and potential new therapies.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
