Evidence map›Paper›PMID 42074016›Full record

ArticleInternational journal of molecular sciences2026

A Whole-Exome Sequencing-Based Exploration of Chronic Kidney Disease of Unknown Etiology (CKDu) in an Endemic Population in Sri Lanka.

Wesley Tom, Chiran Weerakoon, Nirmalee Fernando, Isuru Hasantha, Manoj Bandara, Gary Krzyzanowski, Shanika Nanayakkara, Dominic Cosgrove, Nishantha Nanayakkara, M Rohan Fernando

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Wesley TomMolecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68131, USA.ORCID 0000-0002-5951-5311
Chiran WeerakoonCenter for Research, National Hospital-Kandy, University of Peradeniya, Kandy 20400, Sri Lanka.
Nirmalee FernandoMolecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68131, USA.
Isuru HasanthaCenter for Research, National Hospital-Kandy, University of Peradeniya, Kandy 20400, Sri Lanka.
Manoj BandaraCenter for Research, National Hospital-Kandy, University of Peradeniya, Kandy 20400, Sri Lanka.
Gary KrzyzanowskiMolecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68131, USA.
Shanika NanayakkaraSydney Dental School, Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia.ORCID 0000-0002-5479-9650
Dominic CosgroveMolecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68131, USA.
Nishantha NanayakkaraCenter for Research, National Hospital-Kandy, University of Peradeniya, Kandy 20400, Sri Lanka.ORCID 0000-0002-3405-2912
M Rohan FernandoMolecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68131, USA.ORCID 0000-0002-3596-3160

Funding

Ryan Foundation 64311
6 · The paper itself

Abstract

A distinct form of chronic kidney disease of unknown etiology (CKDu) has emerged in tropical regions of Sri Lanka, predominantly affecting individuals aged 30-60 years in the North Central Province. Unlike conventional chronic kidney disease (CKD), CKDu occurs independently of diabetes or hypertension and is characterized by tubulointerstitial damage, including tubular atrophy, interstitial inflammation, and fibrosis. Epidemiological studies showed familial clustering, suggesting an underlying genetic predisposition. This study aimed to identify genetic variants associated with CKDu in Sri Lankan populations using whole-exome sequencing (WES). Eighty-six individuals (47 CKDu patients and 39 controls) were recruited from endemic and non-endemic regions. Physiological, biochemical, and geographic parameters were recorded. DNA extracted from blood was subjected to WES to identify variants associated with CKDu. Results: A total of 171 unique variants across 121 genes were identified. Among the most prevalent genes were

Indexed as

Chronic Kidney Diseases of Uncertain EtiologyExome SequencingRenal Insufficiency, ChronicAdultCase-Control StudiesEndemic DiseasesFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPolymorphism, Single NucleotideSri Lankachronic kidney diseasechronic kidney disease of uncertain etiologygenetics of chronic kidney diseaseSri Lanka

Identifiers

PMID42074016
PMCPMC13116950

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.