Response to "Understanding familial variability in ADPKD : a comprehensive approach integrating genetics, hormones, and lifestyle for tailored management"
We thank Catania et al.1 for their insightful response to our article.2 We wholeheartedly agree with the points raised in the letter and would like to respond with the following. The study of the intrafamilial variability of Mendelian disorders, including autosomal dominant polycystic kidney disease (ADPKD), represents a clinical conundrum. We consider the factors influencing variability in disease progression as conglomerate lifetime traits (Figure 1). Therefore, to address the significant data-to-evidence gap, the emerging framework that influences the clinical course variability of patients with ADPKD should integrate genetic, phenotypic, and environmental factors, as Catania et al.1 highlighted.
Funding
Royal College of Surgeons in Ireland StAR PhD
HRCI-HRB research grants (Grant code: HRCI-HRB-2020-032)
BioMarin Pharmaceutical
History
Comments
The original article is available at https://www.sciencedirect.com/
Published Citation
Elhassan EA, Cavalleri GL, Conlon PJ. Response to "Understanding familial variability in ADPKD : a comprehensive approach integrating genetics, hormones, and lifestyle for tailored management". Kidney International Reports. 2025;10(1):273-4.