Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder, with a prevalence of 4-6.8 per 10,000 individuals, and the third leading cause of end-stage renal disease (ESRD).ADPKD is primarily caused by mutations in the PKD1 and PKD2 genes.The disease prognosis is also variable: development of terminal ESRD can occur in both older age and earlier stages.It is assumed that modifier genes, polygenic background, and complex genotypes (e.g., digenic inheritance), as well as environmental factors and comorbidities, may contribute to varying disease courses within families.Methods: Clinical observation of 10 patients from 4 unrelated families with ADPKD.In each family, genetic testing was performed on the probands, confirming a PKD1 gene mutation.To compare disease progression, the mean annual change in height-adjusted total kidney volume (htTKV) over the observation period was compared.The median observation period was 4 2; 4.5 years.Categorical variables were compared using Fisher's exact test.A p-value 0.05). Conclusion:The cause of intrafamilial phenotypic variability may lie in the possible influence of modifier genes, epigenetic factors, as well as polygenic factors and environmental influences.This complicates the diagnosis and prognosis of the disease and necessitates a personalized approach to each child, even when working with siblings within the same family.I have no potential conflict of interest to disclose.I did not use generative AI and AI-assisted technologies in the writing process.
Al-Muhaiteeb et al. (Wed,) studied this question.
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