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MYH9-related disease is a rare genetic disorder characterized by macrothrombocytopenia, with frequent proteinuric nephropathy, hearing loss, and cataract. Although proteinuric nephropathy usually progresses to renal failure, there is no established treatment for the nephropathy. We herein describe the case of a 19-year-old man carrying an E1841K MYH9 mutation, who developed persistent proteinuria. The patient was diagnosed with early-stage MYH9-related nephropathy based on the histological examination of a kidney biopsy specimen. The patient was treated with enalapril, which significantly reduced the proteinuria with no decline in his renal function. The early administration of renin-angiotensin system blockade therapy may have beneficial effects on MYH9-related nephropathy in patients with E1841K mutations. We also briefly summarize previously published cases of MYH9-related nephropathy treated with renin-angiotensin system (RAS) blockade therapy.

Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder with genetic defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex in phagocytes, leading to recurrent severe infections and granuloma formation. Genitourinary involvement, including obstructive granulomas, infections, nephrotoxicity of anti-infective agents, and amyloidosis, is frequently observed in patients with CGD, whereas the clinical and pathological details of the less commonly reported glomerular disease remain obscure. Here, we report the case of a patient with CGD who developed rapidly progressive IgA vasculitis-associated nephritis (IgAVN) and review the literature on biopsy-proven glomerular diseases in patients with CGD. A 22-year-old male patient with CGD developed rapidly progressive glomerulonephritis (RPGN) following peripheral purpura and was diagnosed with crescentic IgAVN based on the renal biopsy evaluation. There was no evidence of active infections, and he received pulse intravenous methylprednisolone followed by oral prednisolone. His renal function returned to normal within 4 weeks, and his proteinuria and microhematuria finally resolved. The present case and literature review indicate that IgAVN and IgA nephropathy with RPGN are the most common causes of glomerular disease in patients with CGD. Clinicians should be aware of the possibility of these diseases as causes of RPGN in CGD, because delays in diagnosis and appropriate treatment may affect renal outcomes.

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Keywords：lupus nephritis, anti-glomerular basement membrane antibody, kidney biopsy, IgG 〈Abstract〉 A 43-year old male was admitted to our hospital because of nephrotic syndrome and an acute kidney injury. He had a history of lupus nephritis type V 8 years ago, but had achieved complete remission after treatment. Serological tests showed elevated anti-glomerular basement membrane antibody levels. A kidney biopsy examination showed crescentic glomerulonephritis without IgG deposits. Thus, a diagnosis of lupus nephritis type IV＋V was made. Steroid therapy was started, and plasma exchange was performed. Despite these therapies, the patient's renal function deteriorated, and hemodialysis was initiated. Intravenous cyclophosphamide pulse therapy was added, but the patient's renal function did not improve. A second kidney biopsy was performed on the 48th day. It showed the linear deposition of IgG along the capillary wall, which led to a diagnosis of anti-glomerular basement membrane disease. A further immunosuppressive regimen was considered to be ineffective. Therefore, the steroid therapy was tapered, and hemodialysis was continued. This case report demonstrates that anti-glomerular basement membrane disease can occur during the course of lupus nephritis.