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, People's Republic of China.
Clin Rheumatol. 2021 Aug;40(8):3335-3343. doi: 10.1007/s10067-020-05574-7. Epub 2021 Jan 11.
The co-existence of juvenile idiopathic arthritis (JIA)/rheumatoid arthritis (RA) and focal segmental glomerulosclerosis (FSGS) is rare, and the existence of co-pathogenesis remains unknown. In this study, we analyzed the clinical and gene mutation characteristics of a patient with JIA and FSGS caused by a NPHS2 gene mutation, and evaluated the potential connections between these two diseases. We summarized the clinical manifestations, related examination results, and gene mutation characteristics of the patient who presented at our center and six reported cases of arthritis with renal disease. Most of the cases were polyarticular arthritis with varying degrees of renal damage (hematuria, proteinuria, and renal dysfunction) and different prognoses. Among these patients, two developed end-stage renal disease (ESRD), with one dying as a result, while the other patients had a relatively good prognosis. Patients with a family history of renal disease had a poor prognosis. After excluding occasional factors and drug influences, our analysis indicated the existence of co-pathogenesis of arthritis with renal damage (especially FSGS). NPHS2 mutations might account for the family aggregation. Therefore, evaluation of more clinical cases is necessary to further clarify the underlying co-pathogenesis of these diseases.
幼年特发性关节炎（JIA）/类风湿关节炎（RA）与局灶节段性肾小球硬化症（FSGS）共存的情况较为罕见，其发病机制尚不清楚。本研究分析了一位由 NPHS2 基因突变引起的 JIA 合并 FSGS 患者的临床和基因突变特征，并评估了这两种疾病之间的潜在关联。我们总结了在本中心就诊的 1 例和文献报道的 6 例伴发肾病的关节炎患者的临床表现、相关检查结果和基因突变特点。这些患者多为多关节受累，伴有不同程度的肾脏损害（血尿、蛋白尿和肾功能不全）和不同的预后。其中 2 例发展为终末期肾病（ESRD），1 例死亡，另 1 例患者预后相对较好。有肾脏疾病家族史的患者预后较差。在排除偶发因素和药物影响后，我们的分析提示关节炎伴肾损伤（尤其是 FSGS）存在共同发病机制。NPHS2 基因突变可能导致家族聚集。因此，需要评估更多的临床病例以进一步阐明这些疾病的潜在共同发病机制。
