Alport syndrome complicated with IgA nephropathy: a case report

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Source: Frontiers Medicine

Original: https://www.frontiersin.org/articles/10.3389/fmed.2026.1739845...

Published: 2026-02-16T00:00:00Z

Alport syndrome (AS) and IgA nephropathy (IgAN) are different kidney diseases accompanied by blood in the urine and protein in the urine. AS is a rare inherited disease caused by mutations in the genes for α-chains of collagen IV, which damages the glomerular basement membrane. IgAN is an autoimmune disease with impaired glycosylation of IgA1 that impairs filtration in the kidney. Approximately 15% of IgAN cases have familial clustering and may harbor mutations associated with AS. A 29-year-old woman with no family history was found to have hematuria, proteinuria, a torn basement membrane on biopsy, and a mutation for X-linked AS along with mild IgAN. The patient also had high-frequency hearing loss in the left ear. Treatment included angiotensin receptor blockers, SGLT-2 inhibitors, corticosteroids, and mycophenolate mofetil, but did not produce significant improvement. The case highlights the importance of biopsy and genetic testing for accurate diagnosis and appropriate treatment.