Kerem Parlar , Berkay Aktaş , Sena Ladin Sicakyüz , Sezgin Şahin , Özgür Kasapçopur , Serdal Uğurlu
{"title":"罕见的C1q缺乏表现为小儿SLE：两个近亲兄弟姐妹的病例研究","authors":"Kerem Parlar , Berkay Aktaş , Sena Ladin Sicakyüz , Sezgin Şahin , Özgür Kasapçopur , Serdal Uğurlu","doi":"10.1016/j.reumae.2025.501843","DOIUrl":null,"url":null,"abstract":"<div><div>C1q deficiency is a rare autosomal recessive genetic condition characterized by mutations in genes C1qA, C1qB, or C1qC which can cause a SLE-like disease. Here, we report the cases of two siblings with C1q deficiency, both of whom had homozygous mutations in the C1QA gene. Both of our patients had NP involvement, and the brother had chilblain lesions. Diagnosis of C1q deficiency was delayed, highlighting the importance of clinical suspicion and genetic testing. This is especially crucial in cases with atypical presentations of SLE and a family history of consanguinity.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 3","pages":"Article 501843"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Rare C1q deficiency presenting as pediatric SLE: A case study of two consanguineous siblings\",\"authors\":\"Kerem Parlar , Berkay Aktaş , Sena Ladin Sicakyüz , Sezgin Şahin , Özgür Kasapçopur , Serdal Uğurlu\",\"doi\":\"10.1016/j.reumae.2025.501843\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>C1q deficiency is a rare autosomal recessive genetic condition characterized by mutations in genes C1qA, C1qB, or C1qC which can cause a SLE-like disease. Here, we report the cases of two siblings with C1q deficiency, both of whom had homozygous mutations in the C1QA gene. Both of our patients had NP involvement, and the brother had chilblain lesions. Diagnosis of C1q deficiency was delayed, highlighting the importance of clinical suspicion and genetic testing. This is especially crucial in cases with atypical presentations of SLE and a family history of consanguinity.</div></div>\",\"PeriodicalId\":94193,\"journal\":{\"name\":\"Reumatologia clinica\",\"volume\":\"21 3\",\"pages\":\"Article 501843\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reumatologia clinica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2173574325000413\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reumatologia clinica","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2173574325000413","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Rare C1q deficiency presenting as pediatric SLE: A case study of two consanguineous siblings
C1q deficiency is a rare autosomal recessive genetic condition characterized by mutations in genes C1qA, C1qB, or C1qC which can cause a SLE-like disease. Here, we report the cases of two siblings with C1q deficiency, both of whom had homozygous mutations in the C1QA gene. Both of our patients had NP involvement, and the brother had chilblain lesions. Diagnosis of C1q deficiency was delayed, highlighting the importance of clinical suspicion and genetic testing. This is especially crucial in cases with atypical presentations of SLE and a family history of consanguinity.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
