Abstract
BackgroundAlport 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.Case presentationA 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.Conclusionwe 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.
Highlights
Alport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease causes renal lesions in addition to arthritis
Renal involvement such as urinary abnormalities and renal dysfunction can be observed in Rheumatoid arthritis (RA) patients, which may be mainly mediated by nephrotoxic effects of numerous drugs such as non-steroidal anti-inflammatory drugs (NSAIDs) and disease-modifying antirheumatic drugs (DMARDs) used in RA treatment and less by RA itself according to existing literature [3, 4]
The present patient with the persistence of polyarthritis over six weeks, positive rheumatoid factor (RF), and a high titer of anticitrullinated protein antibodies (ACPA) (>250RU/ml), was definitely diagnosed with the early RA according to 2010 ACR/EULAR classification criteria for RA [5]
Summary
Alport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease causes renal lesions in addition to arthritis. Conclusion: 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). Background Alport syndrome is a relatively rare genetic disease which characterized hematuria and/or proteinuria, progressive renal failure, hearing loss, and ocular abnormalities [1].
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