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Abstract Background and Aims Type IV collagen nephropathy (COL4) encompasses a spectrum of hereditary disorders caused by mutation in genes COL4A3, COL4A4 or COL4A5. The phenotypes of this disorder range from isolated hematuria to end-stage renal disease requiring renal replacement therapy (RRT). The age of initiating RRT is a crucial clinical marker closely associated with extrarenal manifestations, such as hearing loss and ocular abnormalities Method We performed a retrospective analysis of the clinical and genetic features of 91 participants, evaluated by Next Generation Sequencing (NGS), in which 48 (52,8%) were male. Mutation in COL4A5 was confirmed in 61 (67%), mutation in COL4A4 was confirmed in 24 (26,5%), and mutation in COL4A3 was confirmed in only 6 (6.5%) participants. The primary aim of our study was to analyze the association between age of initiating RRT with hearing loss and ocular abnormalities. Results The mean age of participants was 29.9 ± 17.6 years. Twenty patients (22%) receive RRT at a mean age of 43.7 ± 15.8 years, while seventy-one patients (78%) who do not require RRT at a mean age of 25.2 ± 15.9. Our analysis did not show a statistically significant association between the type of mutation in COL4 and the initiation of RRT (P = 0.336). Ocular abnormalities and hearing loss were observed in 20 patients (22%) and were significantly associated with earlier initiation of RRT (P 0.05), compared to patients without extrarenal manifestations. Additionally, gender and other demographic characteristics did not show a significant association with the early onset of RRT. Conclusion Our study highlights the important link between extrarenal manifestations and early onset of RRT in COL4 nephropathy, emphasizing their potential as clinical marker of renal progression. Identifying this association is crucial for improving patient stratification, guide clinical monitoring and facilitating timely interventions to mitigate and delay the progression of kidney failure and the need of RRT.
Gjorgjievski et al. (Wed,) studied this question.