Kidney Disease and Transplant Center, Shonan Kamakura General Hospital, 1370-1, Okamoto, Kamakura, Kanawaga, 247-8533, Japan.
Division of Hematology, Shonan Kamakura General Hospital, Kamakura, Kanawaga, Japan.
BMC Nephrol. 2022 Apr 7;23(1):136. doi: 10.1186/s12882-022-02772-0.
Aplastic anemia (AA) is a rare but fatal disorder characterized by pancytopenia due to bone marrow hypoplasia. Anti-glomerular basement membrane disease (anti-GBM disease) is an immune complex small-vessel vasculitis that presents as rapidly progressive glomerulonephritis and/or pulmonary hemorrhage. Although both involve autoreactive T cells that are partially triggered by human leukocyte antigen (HLA)-DR15, there have been no reports of their co-existence and the treatment strategy is not well understood.
A 67-year-old woman presented with fever, malaise, and acute kidney injury with proteinuria and hematuria requiring hemodialysis. She was diagnosed with anti-GBM antibody disease based on high serum anti-GBM antibody titer and crescentic glomerulonephritis on a renal biopsy. Pulse administration of methylprednisolone (MP), oral prednisolone (PSL), and plasmapheresis were performed. Only 2 weeks after the diagnosis of anti-GBM disease, the patient developed pancytopenia requiring frequent blood transfusions. The blood cell count did not recover even 1 month after discontinuing the drugs that could cause pancytopenia. Bone marrow examination showed hypocellularity without abnormal infiltrates or fibrosis, which led to the diagnosis of severe acquired AA. Further HLA phenotyping revealed that she had HLA-DR15. Increased dose of PSL with the secondary MP pulse and the addition of cyclosporine improved pancytopenia. Although she remained dialysis-dependent, anti-GBM disease and pancytopenia did not recur for more than 2 years.
We report the first case of acquired AA complicated with anti-GBM disease in an elderly woman with HLA-DR15, which was successfully treated with immunosuppressive therapy (IST). This report is valuable not only because it shows they may co-occur, but also because it provides a therapeutic option for this complex condition. It was also suggested that pancytopenia in patients with anti-GBM disease recalls serious hematologic diseases including AA that require immediate treatment based on bone marrow examination.
再生障碍性贫血（AA）是一种罕见但致命的疾病，其特征是由于骨髓发育不良导致全血细胞减少。抗肾小球基底膜病（抗-GBM 病）是一种免疫复合物小血管血管炎，表现为快速进行性肾小球肾炎和/或肺出血。尽管两者都涉及到部分由人类白细胞抗原（HLA）-DR15 触发的自身反应性 T 细胞，但尚未有它们共存的报道，并且治疗策略也不明确。
一名 67 岁女性因发热、乏力和急性肾损伤伴蛋白尿和血尿而就诊，需要进行血液透析。根据血清抗-GBM 抗体滴度高和肾活检新月体肾小球肾炎，该患者被诊断为抗-GBM 抗体病。给予甲基强的松龙（MP）脉冲治疗、口服泼尼松龙（PSL）和血浆置换。在诊断出抗-GBM 病仅 2 周后，该患者出现全血细胞减少，需要频繁输血。停药 1 个月后，血细胞计数仍未恢复，骨髓检查显示细胞减少，但无异常浸润或纤维化，这导致严重获得性 AA 的诊断。进一步的 HLA 表型分析显示她具有 HLA-DR15。增加 PSL 剂量，联合 MP 脉冲治疗和环孢素治疗改善了全血细胞减少。尽管她仍依赖透析，但抗-GBM 病和全血细胞减少症在超过 2 年的时间里没有复发。
我们报告了首例 HLA-DR15 老年女性获得性 AA 合并抗-GBM 病的病例，经免疫抑制治疗（IST）成功治疗。该报告不仅因为它表明两者可能同时发生而具有价值，而且还因为它为这种复杂情况提供了治疗选择。该报告还表明，抗-GBM 病患者的全血细胞减少会引发包括 AA 在内的严重血液疾病，需要根据骨髓检查立即进行治疗。
