Characterization of Monogenic Kidney Disease in Older Patients With CKD
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F25%3A10501979" target="_blank" >RIV/00216208:11110/25:10501979 - isvavai.cz</a>
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=V2NBI2Wfi3" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=V2NBI2Wfi3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ekir.2025.04.017" target="_blank" >10.1016/j.ekir.2025.04.017</a>
Alternative languages
Result language
angličtina
Original language name
Characterization of Monogenic Kidney Disease in Older Patients With CKD
Original language description
Introduction: Although 10% of adults with chronic kidney disease (CKD) have a monogenic cause, the characteristics of monogenic CKD in older adults (aged >= 60 years) are less characterized. We aimed to assess the clinical and genetic spectrum of older adults with CKD and the clinical utility of genetic findings. Methods: The diagnostic yield of clinically validated disease-causing variants and their type ("typical" vs. "later-onset" phenotypes) were analyzed in older patients with suspected monogenic CKD who were referred to an Irish registry according to predetermined criteria. Independent genetic diagnosis and kidney survival time predictors were analyzed using marginal logistic and Cox regression analyses. Results: Two hundred sixty-five adults (from 202 families) were aged >= 60 years at the time of genetic testing, of which 74.3% (197/265) progressed to kidney failure. Diagnostic variants were found in 60.4% (122/202) families, including 39% of noncystic kidney disease families. Variants causing "later-onset" phenotypes were more prevalent in patients with disease-onset >= 60 years (56% vs. 8.3%; P <= 0.001), which include genetic variants in: IFT140, ALG5, ALG9, DNAJB11, COL4A5 in females, monoallelic COL4A3, and the UMOD p.Thr62Pro variant, associated with delayed onset of kidney failure compared with "typical" variants (hazard ratio: 0.52; 95% confidence interval: 0.27-0.98; P = 0.043). A family history of CKD and a priori cystic kidney disease diagnosis independently predicted genetic diagnosis (P <= 0.05). In 24% of older adults with positive results, the treatment plan was modified. Conclusion: In older patients with CKD, genetic testing revealed enriched variants associated with less-penetrant phenotypes, often with a family history of CKD, which affects clinical management.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Kidney International Reports
ISSN
2468-0249
e-ISSN
2468-0249
Volume of the periodical
10
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
2140-2152
UT code for WoS article
001546446800004
EID of the result in the Scopus database
2-s2.0-105004801657