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An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review.
Tang, Xiaofei; Ding, Qiuling; Xu, Dong; Yang, Songtao; Xiao, Yuefei; Liu, Jian.
Afiliação
  • Tang X; Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China.
  • Ding Q; Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China.
  • Xu D; Department of Rheumatism and Immunology, Peking Union Medical College Hospital, Beijing, China.
  • Yang S; Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China.
  • Xiao Y; Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China.
  • Liu J; Department of Nephrology and Rheumatology, Aerospace Center Hospital, Beijing, China. 2120044180@qq.com.
BMC Nephrol ; 20(1): 277, 2019 07 23.
Article em En | MEDLINE | ID: mdl-31337345
ABSTRACT

BACKGROUND:

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. CASE PRESENTATION 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.

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). Whether the overlap of them is occasional or has a common pathophysiological mechanism is still unclear.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: BMC Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Nefrite Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: BMC Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China