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一名携带APOL1肾病高危变异体的患者出现与细小病毒B19和系统性红斑狼疮相关的塌陷性肾小球病。

Collapsing glomerulopathy associated with parvovirus B19 and systemic lupus erythematosus in a patient with APOL1 high-risk variant for nephropathy.

作者信息

Bernardes Thaíza Passaglia, Paula Thalita Alvarenga Ferradosa, Sales Gabriel Teixeira Montezuma, Calais Patrícia Varela, Foresto Renato Demarchi, Moura Luiz Antonio, Durão Junior Marcelino de Souza, Pesquero João Bosco, Kirsztajn Gianna Mastroianni

机构信息

Universidade Federal de São Paulo, Departamento de Medicina, São Paulo, SP, Brazil.

Universidade Federal de São Paulo, Departamento de Biofísica, Centro de Pesquisa e Diagnóstico em Doenças Genéticas, São Paulo, SP, Brazil.

出版信息

J Bras Nefrol. 2025 Jan-Mar;47(1):e20240104. doi: 10.1590/2175-8239-JBN-2024-0104en.

Abstract

Collapsing glomerulopathy (CG) has a severe course typically associated with viral infections, especially HIV and parvovirus B19, systemic lupus erythematosus (SLE), among other etiologies. A 35-year-old woman with recent use of a JAK inhibitor due to rheumatoid arthritis presented with a 2-week history of fever, cervical adenopathy, and facial erythema. After admission, anemia, hypoalbuminemia, proteinuria, and severe acute kidney injury were noted. SLE was diagnosed and parvovirus B19 DNA was detected in serum samples. Kidney biopsy showed CG without any typical features of lupus nephritis. The patient was treated with prednisone and presented marked improvement of anemia and kidney function after a few weeks. In this case, the patient with SLE presented CG possibly caused by parvovirus B19 infection associated with homozygous apolipoprotein 1 (APOL1) G1 genotype, which has been described as a determinant risk factor for this glomerulopathy. It is not clear whether SLE had a causal relationship with glomerular disease or was a concurrent cause. Treatment can be challenging in such a context, as no antiviral drug is efficient and immunosuppression has no discernable benefit, although steroid use was efficient in treating renal manifestations in this case.

摘要

塌陷性肾小球病(CG)病情严重,通常与病毒感染有关,尤其是HIV和细小病毒B19、系统性红斑狼疮(SLE)等病因。一名35岁因类风湿关节炎近期使用JAK抑制剂的女性,出现发热、颈部淋巴结肿大和面部红斑2周病史。入院后,发现贫血、低白蛋白血症、蛋白尿和严重急性肾损伤。诊断为SLE,血清样本中检测到细小病毒B19 DNA。肾活检显示为CG,无狼疮性肾炎的任何典型特征。患者接受泼尼松治疗,几周后贫血和肾功能明显改善。在本病例中,SLE患者出现CG可能是由与纯合载脂蛋白1(APOL1)G1基因型相关的细小病毒B19感染引起,该基因型已被描述为这种肾小球病的决定性危险因素。尚不清楚SLE与肾小球疾病是否存在因果关系或是否为并发原因。在这种情况下治疗具有挑战性,因为没有抗病毒药物有效,免疫抑制也没有明显益处,尽管在本病例中使用类固醇治疗肾脏表现有效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f81/11723606/accdbbe486ec/2175-8239-jbn-47-1-e20240104-gf01.jpg

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