Renal Prognostic Identification in Patients With Autosomal Dominant Polycystic Kidney Disease by Whole Genome Sequencing: A Prospective, Observational Study.

Hirayasu Kai, Joichi Usui, Eri Okada, Ryota Ishii, Taka-Aki Sato, Takuro Tamura, Hiroyuki Nishiyama, Kunihiro Yamagata

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Article in Kidney medicine, 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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8 authors.

Hirayasu KaiIbaraki Clinical Education and Training Center, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Joichi UsuiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Eri OkadaDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Ryota IshiiDepartment of Nephrology, Moriya Keiyu Hospital, Ibaraki, Japan.

Taka-Aki SatoResearch and Development Center for Precision Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Takuro TamuraResearch and Development Center for Precision Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Hiroyuki NishiyamaDepartment of Urology, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Kunihiro YamagataDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rationale & Objective: The association between autosomal dominant polycystic kidney disease (ADPKD) genetic variants and renal prognosis remains unclear. We conducted whole genome sequencing to identify the factors contributing to disease severity. Study Design: Prospective, observational study. Setting & Population: Using data collected from a 2-year prospective cohort of 200 patients with ADPKD, gene mutations were identified using whole genome sequencing. Exposure: None. Outcomes: The primary endpoint was the rate of increase in total kidney volume. The secondary endpoints were composite renal endpoints (induction of dialysis, kidney transplantation, or a decrease in the estimated glomerular filtration rate of ≥25%). Analytical Approach: Logistic regression analyses were performed to determine the factors associated with the outcomes. Results: Among 169 patients for whom genetic diagnosis was performed, genetic mutations were identified in 144 cases, with 109 (75.7%) Limitations: Owing to the various Conclusions:

Indexed as

Autosomal dominant polycystic kidney disease (ADPKD)PKD1 truncationrenal deteriorationtotal kidney volumeWhole Genome Sequencing (WGS)

Identifiers

PMID40978191

DOI10.1016/j.xkme.2025.101059

PMCPMC12447104

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