Describing and Explaining ADPKD Variability Within Families
Achi, Sai Santhoshini, and Mallett, Andrew J. (2024) Describing and Explaining ADPKD Variability Within Families. Kidney International Reports, 9. pp. 523-525.
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Abstract
[Extract] Differences in the experience of kidney disease and other complications of autosomal dominant polycystic kidney disease (ADPKD) within families has long been a clinical conundrum.1 Where large cohort studies have previously identified key associations between genetic etiology and ADPKD phenotype,2,3 there has been a persistent observed and reported phenomena of unexpectedly mild disease in close to 1 in 5 patients.
| Item ID: | 82037 |
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| Item Type: | Article (Commentary) |
| ISSN: | 2468-0249 |
| Copyright Information: | © 2024 International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| Date Deposited: | 26 Mar 2025 02:29 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100% |
| SEO Codes: | 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280103 Expanding knowledge in the biomedical and clinical sciences @ 100% |
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