Evidence map›Paper›PMID 41462127›Full record

ArticleBMC nephrology2025

The diagnostic value of uromodulin protein measurement in autosomal dominant tubulointerstitial kidney disease due to uromodulin mutation (ADTKD-UMOD): serum or urine?

Tamehito Onoe, Mitsuhiro Kawano, Ichiro Mizushima, Kiyoaki Ito, Hiroyuki Kawahara, Takahiro Matsuno, Satoshi Hara, Kazunori Yamada, Takeshi Zoshima, Keiko Goto-Hirano and 9 more

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Article in BMC nephrology, 2025. 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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4 · The record

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5 · Who and what money

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19 authors.

Tamehito OnoeDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan. tamehitoonoe1227@hotmail.com.
Mitsuhiro KawanoDepartment of Hematology and Immunology, Kanazawa Medical University, Uchinada-Machi, Japan.
Ichiro MizushimaDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Kiyoaki ItoDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Hiroyuki KawaharaDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Takahiro MatsunoDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Satoshi HaraDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Kazunori YamadaDepartment of Hematology and Immunology, Kanazawa Medical University, Uchinada-Machi, Japan.
Takeshi ZoshimaDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.
Keiko Goto-HiranoDepartment of Clinical Genetics, Juntendo University, Tokyo, Japan.
Shoichiro DaimonDepartment of Nephrology, Daimon Clinic for Internal Medicine, Nephrology and Dialysis, Nonoichi, Japan.
Hiroaki MuramotoDepartment of Internal Medicine, Japan　Health Care Organization Kanazawa Hospital, Kanazawa, Japan.
Yoshifumi UbaraNephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan.
Michihiro MitobeDepartment of Nephrology, Takeda General Hospital, Aizu Wakamatsu, Japan.
Hiroaki TsurutaDepartment of Medicine, Shiga University of Medical Science, Ōtsu, Japan.
Nao KishimotoDepartment of Nephrology, Higashi-Neyagawa Keijinkai Clinic, Osaka, Japan.
Junko ImuraDepartment of Nephrology and Dialysis, Imura Clinic, Hakusan-city, Japan.
Takayasu MoriDepartment of Medicine, Institute of Science Tokyo, Tokyo, Japan.
Yasunori IwataDepartment of Nephrology and Rheumatology, Kanazawa University, Kanazawa, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal dominant tubulointerstitial kidney disease caused by uromodulin mutation (ADTKD-UMOD) is a hereditary condition characterized by progressive renal dysfunction, often requiring renal replacement therapy by middle age. A notable feature is a strong family history of chronic kidney disease (CKD) and hyperuricemia; however, the absence of urinary abnormalities often delays diagnosis. To facilitate early CKD management, a diagnostic method that is simpler than genetic analysis yet strongly indicative of ADTKD-UMOD is needed.

methodsSerum and urinary UMOD levels were measured in patients with ADTKD-UMOD, healthy controls, and patients with other diseases. We investigated whether reduced UMOD levels are a distinctive feature of ADTKD-UMOD.

resultsIn 13 cases of ADTKD-UMOD, the serum UMOD (sUMOD) was 24.5 ± 13.9 ng/ml, the serum UMOD/GFR (sUMOD/GFR) was 1.23 ± 0.96, and the urinary UMOD/Cr (uUMOD/Cr) was 1.8 ± 0.9 mg/gcr. In the ADTKD-UMOD dataset, the sUMOD values were significantly lower than those in the other disease datasets. The UMOD/Cr and sUMOD/eGFR values also tended to be lower, although statistically significant differences were observed only in limited comparisons. The ROC analysis revealed that a serum UMOD concentration of < 56.4 ng/ml or sUMOD/GFR of < 1.71 is strongly suggestive of ADTKD-UMOD.

conclusionsMeasurement of UMOD protein levels is a useful tool for the diagnosis of　ADTKD-UMOD. Considering the stability of the procedure, serum UMOD may be more reliable than urinary UMOD measurement.

Indexed as

Nephritis, InterstitialUromodulinAdultAgedBiomarkersFemaleHumansMaleMiddle AgedMutationBiomarkersUMOD protein, humanUromodulinADTKD-UMODChronic kidney diseaseDiagnostic valueSerum uromodulinUromodulin

Identifiers

PMID41462127
PMCPMC12752359

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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.