Evidence map›Paper›PMID 36450716›Full record

ArticleHuman genome variation2022

A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.

Maho Hatano, Tomohiro Udagawa, Toru Kanamori, Akito Sutani, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Tomohiro Morio, Masato Nishioka

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 29% of its field
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Renal glucosuria in children.World journal of clinical pediatrics · 2025
    Review
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 at 2 institutions in 1 country.

Maho HatanoDepartment of Pediatrics, Kawaguchi Municipal Medical Center, 180, Nishiaraijuku, Kawaguchi, 333-0833, Saitama, Japan.ORCID http://orcid.org/0000-0002-8261-5812
Tomohiro UdagawaDepartment of Ped iatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan. tudaped@tmd.ac.jp.ORCID http://orcid.org/0000-0002-7177-6426
Toru KanamoriDepartment of Ped iatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan.
Akito SutaniDepartment of Pediatrics, Kawaguchi Municipal Medical Center, 180, Nishiaraijuku, Kawaguchi, 333-0833, Saitama, Japan.ORCID http://orcid.org/0000-0003-1393-5203
Takayasu MoriDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan.
Eisei SoharaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan.
Shinichi UchidaDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan.
Tomohiro MorioDepartment of Ped iatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Yushima, Bunkyo-ku, 113-8519, Tokyo, Japan.
Masato NishiokaDepartment of Pediatrics, Kawaguchi Municipal Medical Center, 180, Nishiaraijuku, Kawaguchi, 333-0833, Saitama, Japan.
Tokyo Medical and Dental University · JPNoguchi Hospital · JP

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 20K16848
6 · The paper itself

Abstract

Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal blood glucose levels in the absence of overt tubular dysfunction. SGLT2 is a sodium-glucose cotransporter expressed in the proximal tubule; loss-of-function variants in SLC5A2 are the primary cause of FRG. Heterozygous variants have rarely been reported in Japanese individuals. Here, we identified a novel SLC5A2 heterozygous variant, c.1348G>T: p.Gly450Trp, in a Japanese family comprising two children and their father.

Identifiers

PMID36450716
PMCPMC9712647
OpenAlexW4310638966

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.