Evidence map›Paper›PMID 38447554›Full record

ArticleNephron2024

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.

Gerrit van den Berg, Laura R Claus, Bert van der Zwaag, Phillis Lakeman, Genomics England Research Consortium, Lotte Kaasenbrood, John A Sayer, Marc R Lilien, Albertien M van Eerde

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

Article in Nephron, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

9 authors at 3 institutions in 2 countries.

Gerrit van den BergDepartment of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Laura R ClausDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Bert van der ZwaagDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Phillis LakemanDepartment of Human Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Genomics England Research Consortium
Lotte KaasenbroodDepartment of Nephrology, University Medical Center Utrecht, Utrecht, The Netherlands.
John A SayerNewcastle University, Translational and Clinical Research Institute, Newcastle Upon Tyne, UK.
Marc R LilienDepartment of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Albertien M van EerdeDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
University Medical Center Utrecht · NLNewcastle University · GBWilhelmina Children's Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Medullary sponge kidney (MSK) is a description of radiographic features. However, the pathogenesis of MSK remains unclear. MSK is supposed to be the cause of secondary distal renal tubular acidosis (dRTA), although there are case reports suggesting that MSK is a complication of primary dRTA. In addition to these reports, we report 3 patients with metabolic acidosis and MSK, in whom primary dRTA is confirmed by molecular genetic analyses of SLC4A1 and ATP6V1B1 genes. With a comprehensive genetics-first approach using the 100,000 Genomes Rare Diseases Project dataset, the association between MSK and primary dRTA is examined. We showed that many patients with MSK phenotypes are genetically tested with a gene panel which does not contain dRTA-associated genes, revealing opportunities for missed genetic diagnosis. Our cases highlight that the radiological description of MSK is not a straightforward disease or clinical phenotype. Therefore, when an MSK appearance is noted, a broader set of causes should be considered including genetic causes of primary dRTA as the underlying reason for medullary imaging abnormalities.

Indexed as

Acidosis, Renal TubularMedullary Sponge KidneyAdultAnion Exchange Protein 1, ErythrocyteFemaleHumansMaleMiddle AgedVacuolar Proton-Translocating ATPasesAnion Exchange Protein 1, ErythrocyteATP6V1B1 protein, humanSLC4A1 protein, humanVacuolar Proton-Translocating ATPasesCase reportsDistal renal tubular acidosisGeneticsMedullary sponge kidneyNephrocalcinosis

Identifiers

PMID38447554
PMCPMC11332308
OpenAlexW4392603649

What OpenQuestion holds

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LicenceCC BY-NC
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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.