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Response to "Understanding familial variability in ADPKD : a comprehensive approach integrating genetics, hormones, and lifestyle for tailored management"

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posted on 2025-01-30, 11:53 authored by Elhussein ElhassanElhussein Elhassan, Gianpiero CavalleriGianpiero Cavalleri, Peter ConlonPeter Conlon

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.

Publication Date

25 October 2024

PubMed ID

39810781

Department/Unit

  • Beaumont Hospital
  • Medicine
  • School of Pharmacy and Biomolecular Sciences

Publisher

Elsevier BV

Version

  • Published Version (Version of Record)

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