Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.

Mary Huang, Timothy Pianta, David Barit, Khalid Mahmood, Deb Colville, Heather Mack, Judy Savige

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Article in Scientific reports, 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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5 · Who and what money

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7 authors.

Mary HuangDepartment of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Melbourne, Australia.

Timothy PiantaRenal Unit, Northern Health, Melbourne , Australia.

David BaritRenal Unit, Northern Health, Melbourne , Australia.

Khalid MahmoodMelbourne Bioinformatics, The University of Melbourne, Melbourne, Australia.

Deb ColvilleDepartment of Surgery (Ophthalmology), The University of Melbourne, Melbourne, Australia.

Heather MackDepartment of Surgery (Ophthalmology), The University of Melbourne, Melbourne, Australia.

Judy SavigeDepartment of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Melbourne, Australia. jasavige@unimelb.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic disease is often unrecognised. This study examined how often renal clinic patients, with a non-genetic diagnosis and without a family history of genetic disease recorded at the last three visits, had an underlying genetic form of kidney disease or diabetes. Sixty-four consecutive unrelated patients from a general nephrology clinic (44 male, 20 female) with a median age of 66 years (range 26 - 87) underwent chart review and Whole Exome Sequencing (WES). WES results were filtered for rare disease-causing single nucleotide and copy number variants in genetic kidney disease (n = 495) and monogenic diabetes (n = 8) genes. The patients' diagnoses included diabetes (n = 36, 56%), diabetic kidney disease (n = 28, 44%), autoimmune glomerulonephritis (n = 20,31%) or others (n = 12, 19%). Six (9%) volunteered a family history of genetic disease at recruitment. Twenty had at least one kidney cyst on imaging (20/59, 34%). Forty-four (69%) had an eGFR between 20 and 60 ml/min/1.73m

Indexed as

Diabetes MellitusDiabetic NephropathiesKidney DiseasesAdultAgedAged, 80 and overDNA Copy Number VariationsExome SequencingFemaleHumansMaleMiddle Aged

Identifiers

PMID42141127

DOI10.1038/s41598-026-52836-6

PMCPMC13369473

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