Evidence map›Paper›PMID 42282999›Full record

ArticleKidney international reports2026

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano and 15 more

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Article in Kidney international 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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0citing papers in PubMed
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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

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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

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4 · The record

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5 · Who and what money

Authors and funding

25 authors.

Yuta InokiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Nana SakakibaraDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Asahi YamamotoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Yuka KimuraDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Shuhei AoyamaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Atsushi KondoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Hiroaki HanafusaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Tomoko HorinouchiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Tomohiko YamamuraDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
China NaganoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Shingo IshimoriDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Shinya AsatoDepartment of Pediatrics, National Hospital Organization Saitama Hospital, Wako, Japan.
Akihiro FukudaDepartment of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Yufu, Japan.
Shun HashimotoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Tsubasa MuraseDepartment of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Koji NagataniDepartment of Pediatrics, Uwajima City Hospital, Uwajima, Japan.
Izaya NakayaDepartment of Nephrology and Rheumatology, Iwate Prefectural Central Hospital, Morioka, Japan.
Takayuki OkamotoDepartment of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.
Shunsuke TakayanagiDepartment of Nephrology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Hiroshi TanakaDepartment of Nursing, Faculty of Health and Medical Care, Hachinohe Gakuin University, Hachinohe, Japan.
Koji TsugawaDepartment of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Tatsuo TsukamotoDepartment of Nephrology and Dialysis, Medical Research Institute Kitano Hospital, Osaka, Japan.
Takeshi YamadaDepartment of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan.
Masaki YamamotoDepartment of Pediatrics, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The clinical and genetic spectrum of inherited Fanconi renotubular syndrome (FRTS) remains incompletely characterized, and the role of recently recognized genes such as Methods: This retrospective study included 20 families with FRTS (14 pediatric and 6 adult index cases) who underwent targeted panel sequencing between 2016 and 2024. The variant spectrum and clinical characteristics were evaluated. Previously reported cases were reviewed to elucidate the phenotypic spectrum and renal prognosis in patients with Results: Pathogenic variants were identified in 13 of 20 index cases (65%; 4 pediatric, 9 adult cases). Disease-causing genes detected included Conclusion: Over half of the patients with primary FRTS displayed detectable monogenic etiologies, with

Indexed as

Fanconi syndromeGATMgenetic kidney diseasetargeted panel sequence

Identifiers

PMID42282999
PMCPMC13251489

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