Evidence map›Paper›PMID 40533238›Full record

ArticleInternal medicine (Tokyo, Japan)2026

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation.

Toshiaki Usui, Shun Ishibashi, Akihisa Hattori, Soichiro Nomura, Kentaro Nakajima, Takuya Harada, Tomoki Akiyama, Ryoya Tsunoda, Eri Okada, Naoki Morito and 7 more

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In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Toshiaki UsuiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Shun IshibashiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Akihisa HattoriDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Soichiro NomuraDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Kentaro NakajimaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Takuya HaradaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Tomoki AkiyamaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Ryoya TsunodaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Eri OkadaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Naoki MoritoDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Kaori MaseDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Chie SaitoDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Joichi UsuiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Hirayasu KaiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Naoya MorisadaDepartment of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Japan.
Kunihiro YamagataDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 44-year-old woman presented with bilateral kidney cysts, scattered hepatic cysts, and a family history of polycystic kidney disease initially suspected of being autosomal dominant polycystic kidney disease (ADPKD). However, her clinical course showed atypical features: a modest total kidney volume increase (436 to 643 mL over 4 years) and rapid progression to end-stage kidney disease by 48 years old. Genetic testing revealed autosomal dominant tubulointerstitial kidney disease caused by a UMOD mutation (ADTKD-UMOD). This case highlights the importance of considering genetic testing in ADPKD cases with atypical features, since the diagnosis affects treatment decisions, including kidney replacement therapy selection.

Indexed as

MutationPolycystic Kidney, Autosomal DominantUromodulinAdultFemaleGenetic TestingHumansUMOD protein, humanUromodulinautosomal dominant polycystic kidney disease (ADPKD)autosomal dominant tubulointerstitial kidney disease (ADTKD)genetic testingUMOD

Identifiers

PMID40533238
PMCPMC12854953

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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.