Evidence map›Paper›PMID 42684599›Full record

ArticleCEN case reports2026

Rapidly progressive steroid-resistant focal segmental glomerulosclerosis associated with an INF2 exon 6 variant.

Syuhei Watanabe, Kenichi Tanaka, Tasuku Ishikawa, Takumi Nishiyama, Yuto Otsuki, Hirotaka Saito, Hiroshi Kimura, Atsushi Ono, Junichiro James Kazama

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in CEN case 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.

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

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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

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

9 authors.

Syuhei WatanabeDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Kenichi TanakaDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan. kennichi@fmu.ac.jp.ORCID 0000-0003-4655-9355
Tasuku IshikawaDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Takumi NishiyamaDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Yuto OtsukiDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Hirotaka SaitoDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Hiroshi KimuraDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.
Atsushi OnoDepartment of Pediatrics, Fukushima Medical University, Fukushima, Japan.
Junichiro James KazamaDepartment of Nephrology and Hypertension, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variants in the inverted formin-2 (INF2) gene are a known cause of hereditary focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease. We report a case of rapidly progressive FSGS associated with a rare INF2 variant. A 12-year-old boy developed proteinuria and was diagnosed with FSGS at age 14 following a renal biopsy. Steroid therapy and subsequent immunosuppressive treatments, including plasma exchange, were ineffective. At age 15, a heterozygous missense variant in exon 6 of the INF2 gene (c.763G>A, p.Asp255Asn) was identified. Despite conservative management, the patient progressed to end-stage kidney disease at age 17. Although exon 6 variants are rarely reported, the present case showed a relatively aggressive renal course.

Indexed as

ForminsGlomerulosclerosis, Focal SegmentalBiopsyChildDisease ProgressionExonsHumansKidneyKidney Failure, ChronicMaleMutation, MissenseNephrotic SyndromeProteinuriaForminsINF2 protein, humanFocal segmental glomerulosclerosisGenetic kidney diseaseInverted formin-2Steroid-resistant nephrotic syndrome

Identifiers

PMID42684599
PMCPMC13538315

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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.