DOI 10.47717/turkjsurg.2026.2025-12-4
Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review.
Аннотация
Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in COL4A3, COL4A4, or COL4A5, leading to type IV collagen defects and progressive glomerular basement membrane dysfunction. Kidney transplantation provides excellent long-term outcomes; however, donor eligibility, genotype-specific prognosis, and post-transplant complications continue to raise important clinical considerations in the era of precision medicine. We present a comparative case series of three genetically confirmed patients with AS who underwent kidney transplantation: Two with X-linked disease and one with autosomal-dominant inheritance. Genetic, clinical, and immunologic findings were analyzed and contextualized within current literature and recommendations. All patients initially achieved functioning grafts. The autosomal-dominant case demonstrated stable long-term function under cyclosporine-based immunosuppression. Among the X-linked cases, one experienced coronavirus diease-2019-associated arterial thrombosis requiring graft nephrectomy and subsequently underwent successful deceased-donor transplantation one year later; the other developed late antibody-mediated rejection six years post-transplant, with partial recovery following corticosteroid therapy. Kidney transplantation is an effective treatment for AS when guided by molecular confirmation and careful donor evaluation. In this national case series of three patients, outcomes were generally favorable across inheritance types; however, vascular events and late humoral immune complications affected the long-term course of the graft and underscored the need for individualized surveillance.
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