Evidence map›Paper›PMID 32884933›Full record

ArticleCase reports in nephrology and dialysis

A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations.

Moena Ishikawa, Yumi Tada, Hiromu Tanaka, Wataru Morii, Masako Inaba, Hidetoshi Takada, Takayasu Mori, Emiko Noguchi

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

Article in Case reports in nephrology and dialysis. 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
0.2field-weighted citation impact, top 50% 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, 2 citations in OpenAlex.

  1. Article
  2. A novel mutation ofSAGE open medical case reports · 2022
    Article
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

8 authors at 3 institutions in 1 country.

Moena IshikawaDepartment of Medical Genetics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Yumi TadaDepartment of Pediatrics, Tsukuba Gakuen Hospital, Tsukuba, Japan.
Hiromu TanakaDepartment of Medical Genetics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Wataru MoriiDepartment of Medical Genetics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Masako InabaDepartment of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Hidetoshi TakadaDepartment of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Takayasu MoriDepartment of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Emiko NoguchiDepartment of Medical Genetics, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
University of Tsukuba · JPTokyo Medical and Dental University · JPTsukuba Memorial Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS patient from a three-generation family whose mother and maternal grandmother were asymptomatic. The proband was a 16-year-old Japanese girl with muscle weakness and continuous hypokalemic metabolic alkalosis. The patient, her mother, and her maternal grandmother were compound heterozygous for, and each expressing a different combination of, previously reported

Indexed as

Acid-base equilibriumCompound heterozygoteGitelman syndrome

Identifiers

PMID32884933
PMCPMC7443650
OpenAlexW3042416450

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.