Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease
Non-PKD1 variants have heterogeneous phenotypic and genotypic attributes resulting in milder disease, although ADPKD-NEK8 is an important exception with early progression.
Authors
- John Holian
- Omri Teltsh (ORCID: https://orcid.org/0000-0003-3422-809X)
- Sophia Heneghan (ORCID: https://orcid.org/0000-0002-4467-3499)
- Atif Awan (ORCID: https://orcid.org/0000-0002-1615-2602)
- Amy Hudson
- Elhussein A. Elhassan (ORCID: https://orcid.org/0000-0002-8689-8602)
- Donal J. Sexton (ORCID: https://orcid.org/0000-0001-8262-632X)
- Gianpiero L. Cavalleri (ORCID: https://orcid.org/0000-0002-9802-0506)
- Katherine A. Benson (ORCID: https://orcid.org/0000-0003-3529-315X)
- D. O’Donoghue
- Clodagh Sweeney
- David Synnott
- David Lappin
- Liam Casserly
- Peter J. Conlon (ORCID: https://orcid.org/0000-0001-6772-9531)
- Michelle Clince
- Emma McCann
- Sophie Craig
- Shohdan M Osman
- Brendan Doyle
- Colm Magee
- Mark Denton
- Sahin Sarihan
Institutions
- Royal College of Surgeons in Ireland (IE)
- Trinity College Dublin (IE)
- Beaumont Hospital (IE)
- University Hospital Galway (IE)
- University Hospital Limerick (IE)
- Children's Health Ireland at Crumlin (IE)
- St. Vincent's University Hospital (IE)
- St. James's Hospital (IE)
Publication Details
- Journal
- Journal of Nephrology
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1007/s40620-024-02184-3
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82