COL4A4基因突变相关薄基底膜肾病合并幼年特发性关节炎1例  

Thin basement membrane nephropathy combined with juvenile idiopathic arthritis caused by the COL4A4 gene mutation:a case report

作　　者：石多美 唐雪梅[1] Shi Duomei;Tang Xuemei(Department of Rheumatology and Immunology,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders,China International Science and Technology Cooperation Base of Child development and Critical Disorders,Chongqing Key Laboratory of Child Infection and Immunity,Children′s Hospital of Chongqing Medical University,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科,儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地,儿童感染免疫重庆市重点实验室,重庆400014

出　　处：《中华实用儿科临床杂志》2022年第10期784-786,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对2017年11月在重庆医科大学附属儿童医院就诊的1例薄基底膜肾病合并幼年特发性关节炎患儿的临床资料进行回顾性分析。患儿, 男, 7岁11个月, 临床表现为双手指间关节肿大、步态异常, 完善相关检查确诊幼年特发性关节炎;住院期间行尿常规检查发现镜下血尿(隐血2+, 红细胞71个/μL), 未予特殊处理;出院长期随访, 患儿关节症状反复且有持续镜下血尿。2019年2月完善基因检测提示COL4A4基因杂合突变[c.3479G>A(p.G1160E)], 肾活检提示薄基底膜肾病。检索到文献报道的1例类风湿关节炎患者, 同时合并COL4A5基因杂合突变(c.1351 T>C, p.Cys451Arg)所致Alport综合征。考虑以上2例患者均为Ⅳ型胶原基因突变, 且均表现为多关节受累和不同程度的肾脏损害, 若排除偶然因素和药物影响, 关节炎与某些肾脏病变可能在基因背景下存在共同致病环节, 但具体机制需要进一步实验研究证实, 希望为临床医师在相关疾病诊疗上提供新的思考方向。To analyze a case of thin basement membrane nephropathy combined with juvenile idiopathic arthritis diagnosed in November 2017 in Children′s Hospital of Chongqing Medical University.A male patient with 7 years and 11 months old presented with swelling of bilateral interphalangeal joints and abnormal gait was diagnosed as juve-nile idiopathic arthritis.Urine examination revealed microscopic hematuria.Long-term follow-up after discharge showed recurrent joint symptoms and persistent microscopic hematuria.In February 2019,genetic testing showed the COL4A4 gene mutation(c.3479G>A p.G1160E).Through literature review,a case of rheumatoid arthritis complica-ted with Alport syndrome caused by the COL4A5 gene mutation c.1351T>C(p.Cys451Arg)was previously reported.Both of 2 patients were diagnosed as collagen typeⅣ-related renal diseases complicated with arthritis,and multiple joints involvement and renal involvement were detected.Excluding the influence of accidental factors and drugs,arthritis and some kidney diseases may have a co-pathogenesis under genetic background.The specific mechanism needs further exploration.This case report provided novel direction for the diagnosis and treatment of relevant diseases.

关 键 词：幼年特发性关节炎 类风湿性关节炎 薄基底膜肾病 ALPORT综合征 

分 类 号：R726.9[医药卫生—儿科] R726.8[医药卫生—临床医学]