Evidence map›Paper›PMID 41847665›Full record

ArticleFrontiers in medicine2025

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

YuXin Li, Jing Zhang, Zhuo Jun Yin, Ziming Zhou, Bocheng Huang, Khalid Mahmood, Deb Colville, David Barit, Russell Auwardt, Robert Fassett and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

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

16 authors.

YuXin Li *Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Jing Zhang *Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Zhuo Jun Yin *Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Ziming Zhou *Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Bocheng Huang *Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Khalid MahmoodMelbourne Bioinformatics, The University of Melbourne, Parkville, VIC, Australia.
Deb ColvilleDepartment of Surgery (Ophthalmology), Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.
David BaritRenal Unit, Northern Health, Epping, VIC, Australia.
Russell AuwardtRenal Unit, Albury Hospital, Albury-Wodonga, VIC, Australia.
Robert FassettTasmanian Health Service, North West, Burnie, TAS, Australia.
Kathy PaizisDepartment of Nephrology, Austin Health, Melbourne, VIC, Australia.
Francesco IerinoDepartment of Nephrology, Austin Health, Melbourne, VIC, Australia.
Timothy PiantaRenal Unit, Northern Health, Epping, VIC, Australia.
David LangsfordRenal Unit, Northern Health, Epping, VIC, Australia.
Mary HuangDepartment of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.
Judy SavigeDepartment of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, VIC, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: One in seven people with IgA nephropathy has another apparently-affected family member. This study examined how often biopsy-proven familial and sporadic IgA nephropathy were associated with genetic kidney disease. Methods: Eleven unrelated people with biopsy-proven IgA nephropathy and another family member with kidney tests compatible with IgA nephropathy were recruited. All available family members were assessed for genetic kidney disease, using Whole Exome Sequencing (WES). Their results were compared with those of 39 people with sporadic IgA nephropathy. All sequencing results were filtered for pathogenic variants in genes associated with genetic kidney disease (Genomics England panels, Results: Nine of the 11 probands (82%) with familial nephropathy and 30 of those with sporadic disease (77%) had kidney failure. At least five (45%) and possibly nine (82%) of the 11 families studied had disease-associated heterozygous variants consistent with a coexistent genetic kidney disease (autosomal dominant (AD) and X-linked (XL) Alport syndrome, ADTKD- Conclusion: Many familial cases of IgA nephropathy result from mesangial IgA deposition in the setting of coexisting genetic kidney disease. Sometimes, genetic kidney disease is not detected in the proband but is present in another family member. Individuals from families with IgA nephropathy should be offered genetic testing.

Indexed as

Alport syndromeautosomal dominantfamilial hematuriafamilial kidney diseasegenetic kidney diseaseIgA nephropathysevere IgA nephropathy

Identifiers

PMID41847665
PMCPMC12989355

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