Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China.
Department of Rheumatism and Immunology, Peking Union Medical College Hospital, Beijing, China.
BMC Nephrol. 2019 Jul 23;20(1):277. doi: 10.1186/s12882-019-1462-3.
Alport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease also causes renal lesions in addition to arthritis. The overlap of them has rarely been reported.
A 44-year-old man had a history of multi-joint swelling and pain for more than half a year. His laboratory data with double positive for rheumatoid factor and anticitrullinated protein antibodies further supported the diagnosis of early rheumatoid arthritis. His previous medical history including progressive hearing loss for several years and microhematuria for one year attracted our attention. Renal biopsy showed thin basement membrane nephropathy and lymphocytes infiltration of interstitium. To make a precise diagnosis, targeted Next Generation Sequencing (NGS) of an inherited renal disease panel including Alport syndrome genes was performed, which revealed the missense mutation in COL4A5 (c.1351 T > C, p.Cys451Arg). Further in silico analyses predicted that the p. Cys451Arg mutation is functionally "damaging", so the diagnosis of Alport syndrome was finally proved. The patient has been receiving the treatment of total glucosides of paeony and leflunomide for rheumatoid arthritis, and Cozaar 50 mg for the protection of kidney so far. During the 10-months follow-up, swelling and tenderness of the joints in this patient had been generally relieved, with no obvious improvement in microhematuria and a slight increase in proteinuria.
we reported an adult man with the coexistence of rheumatoid arthritis and Alport syndrome with the missense mutation in COL4A5 (c.1351 T > C, p.Cys451Arg). Whether the overlap of them is occasional or has a common pathophysiological mechanism is still unclear.
Alport 综合征是一种罕见的遗传性肾脏疾病，类风湿关节炎作为一种常见的自身免疫性疾病，除了关节炎外，还会导致肾脏病变。它们的重叠很少被报道。
一名 44 岁男性，有半年多多关节肿胀和疼痛的病史。他的实验室数据类风湿因子和抗瓜氨酸蛋白抗体均为阳性，进一步支持早期类风湿关节炎的诊断。他以前的病史包括几年的渐进性听力损失和一年的镜下血尿，引起了我们的注意。肾活检显示薄基底膜肾病和间质淋巴细胞浸润。为了做出准确的诊断，对包括 Alport 综合征基因在内的遗传性肾脏疾病靶向下一代测序（NGS）进行了检测，结果显示 COL4A5 基因的错义突变（c.1351T>C，p.Cys451Arg）。进一步的计算机分析预测该 p.Cys451Arg 突变具有功能“破坏性”，因此最终诊断为 Alport 综合征。该患者一直在接受白芍总苷和来氟米特治疗类风湿关节炎，以及科素亚 50mg 保护肾脏，至今已有 10 个月的随访。在此期间，该患者的关节肿胀和压痛总体上已缓解，镜下血尿无明显改善，蛋白尿略有增加。
我们报告了一名成年男性同时患有类风湿关节炎和 Alport 综合征，COL4A5 基因的错义突变（c.1351T>C，p.Cys451Arg）。它们的重叠是偶然的还是具有共同的病理生理机制尚不清楚。
