Thin basement membrane nephropathy combined with juvenile idiopathic arthritis caused by the COL4A4 gene mutation: a case report
10.3760/cma.j.cn101070-20210224-00223
- VernacularTitle: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
- Author:
Duomei SHI
1
;
Xuemei TANG
Author Information
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
- Keywords:
Juvenile idiopathic arthritis;
Rheumatoid arthritis;
Thin basement membrane nephropathy;
Alport syndrome
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(10):784-786
- CountryChina
- Language:Chinese
-
Abstract:
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 type Ⅳ-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.
