Evidence map›Paper›PMID 31119091›Full record

ArticleClinical nephrology. Case studies2019

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation.

Júlia Guasti P Vianna, Thiago Gabriel Simor, Pamella Senna, Michell Roncete De Bortoli, Everlayny Fiorot Costalonga, Antonio Carlos Seguro, Weverton Machado Luchi

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

Article in Clinical nephrology. Case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Pediatric nephrology (Berlin, Germany) · 2021
    Review
  4. Review
  5. 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

7 authors at 2 institutions in 1 country.

Júlia Guasti P ViannaInternal Medicine at Cassiano Antonio Moraes Hospital, Federal University of Espírito Santo.
Thiago Gabriel SimorFederal University of Espírito Santo.
Pamella SennaFederal University of Espírito Santo.
Michell Roncete De BortoliFederal University of Espírito Santo.
Everlayny Fiorot CostalongaDepartment of Internal Medicine, Division of Endocrinology, Federal University of Espírito Santo, Vitória, ES.
Antonio Carlos SeguroDepartment of Nephrology, School of Medicine, University of São Paulo, São Paulo, and.
Weverton Machado LuchiDepartment of Internal Medicine, Division of Nephrology, Federal University of Espírito Santo, Vitória, ES, Brazil.
Universidade Federal do Espírito Santo · BRUniversidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick ascending limb of Henle's loop. Progressive renal failure is frequently present, and most of the patients require renal replacement therapy still during adolescence. In this case report, we describe a new homozygous missense mutation on

Indexed as

claudin-16CLDN16hypercalciuriahypomagnesemianephrocalcinosis

Identifiers

PMID31119091
PMCPMC6528384
OpenAlexW2945308181

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.