Beyond Living Donor Kidney Transplantation in COL4 Nephropathy - A Real-World Clinical Dilemma in Light of Current Guidelines

Karanfilovski, Vlatko; Shterjova Markovska, Zhaklina; Tasic, Velibor; Canevska Taneska, Aleksandra; Plashevska-karanfilovska, Dijana; Nikolov, Igor; Gjorgjievski, Nikola; Trpevska Shekerinov Natasha

doi:10.2478/bjmg-2025-00022

Beyond Living Donor Kidney Transplantation in COL4 Nephropathy - A Real-World Clinical Dilemma in Light of Current Guidelines

Journal

Balkan journal of medical genetics : BJMG

ISSN

1311-0160

Date Issued

2025-12

Author(s)

DOI

10.2478/bjmg-2025-00022

Abstract

Kidney transplantation is the best choose of modality for treatment of the patients with end-stage kidney disease (ESKD). However, hereditary conditions like COL4 nephropathy introduce significant obstacles in living kidney donor selection. This review presents a real-world clinical dilemma involving a 24-year-old male with autosomal recessive COL4 nephropathy (Alport syndrome) and his 51-year-old mother, a heterozygous carrier. We analyzed the clinical spectrum of COL4 nephropathy in North Macedonia, where 92 patients have been identified via next-generation sequencing (NGS), and COL4A5 mutations were the most prevalent at 67.4%. Because current the kidney disease improving global outcomes (KDIGO) recommendations for living kidney donor evaluation are general and offer scarce guidance for hereditary conditions, we evaluated the recent 2025 ERK Net/ERA/ESPN criteria. These updated guidelines suggest that while donation is generally avoided in carriers, it may be considered in highly selected individuals over 40 years of age with preserved kidney function and no subclinical kidney damage on biopsy. Careful and individualized evaluation of potential living donors from affected families is essential. This approach is particularly important in settings with persistent organ shortages and limited access to deceased-donor transplantation.