ArticleInternal medicine (Tokyo, Japan)2025
Progressive Renal Dysfunction in Autosomal-dominant Alport Syndrome Co-occurring with C1q Nephropathy.
Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
A 47-year-old man with nephrotic syndrome and stage 4 chronic kidney disease was diagnosed with C1q nephropathy presenting with focal segmental glomerulosclerosis (FSGS) on a renal biopsy. A genetic analysis performed because of a family history of microscopic hematuria and lamellar glomerular basement membranes identified a heterozygous COL4A4 variant, leading to a genetic diagnosis of autosomal-dominant Alport syndrome (ADAS). Despite immunosuppressive therapy, the patient progressed to end-stage kidney disease much earlier than in previously reported cases of C1q nephropathy. This case suggests that the synergistic effects of C1q nephropathy-induced podocyte damage and abnormal glomerular basement membrane due to ADAS may promote rapid progression of FSGS.
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