Evidence map›Paper›PMID 42894630›Full record

ArticleKidney international reports2026

Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants of

Eveline J E M Kahlman, Nicole van der Zanden, Ela Zaťková, Caro Bos, Justine Bacchetta, Hendrica Belge, Charlotte M H H T Bootsma-Robroeks, Maria Luisa Brandi, Jean-François Cambier, Éloïse Colliou and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international 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

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

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

22 authors.

Eveline J E M KahlmanDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Nicole van der ZandenDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Ela ZaťkováDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Caro BosDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Justine BacchettaLYOS INSERM1033 Research Unit, Department of Pediatric Nephrology, Rheumatology and Dermatology, Reference Center for Rare Renal Diseases, Reference Center for Rare Diseases of Phosphate and Calcium, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France.
Hendrica BelgeCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Charlotte M H H T Bootsma-RobroeksDepartment of Paediatrics, Paediatric Nephrology, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Maria Luisa BrandiFondazione FIRMO Onlus (Italian Foundation for the Research on Bone Diseases), Florence, Italy.
Jean-François CambierDivision of Nephrology, Grand hôpital de Charleroi, Gilly, Belgium.
Éloïse ColliouDépartement de Néphrologie et Transplantation d'Organes, Centre de Référence des Maladies Rénales Rares, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.
Nathalie DemoulinDivision of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Lucile FigueresCenter for Research in Transplantation and Translational Immunology, INSERM, CHU Nantes, Nantes Université, UMR 1064, ITUN, Nantes, France.
Laurence HeidetLaboratoire des Maladies Rénales Héréditaires, Service de Néphrologie Pédiatrique Centre de Référence Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
Giovanna MantovaniEndocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Matko MarlaisDepartment of Nephrology, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London, UK.
John A SayerNIHR Newcastle Biomedical Research Centre & Renal Services, Newcastle Hospitals NHS Foundation Trust, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Karl P SchlingmannDepartment of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Münster, Germany.
European Rare Kidney Diseases Reference Network (ERKNet) and European Reference Network rare endocrine conditions (Endo-ERN) collaborators
Leo A MonnensDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Joost G J HoenderopDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Tom NijenhuisDepartment of Nephrology, Radboud university medical center, Nijmegen, The Netherlands.
Jeroen H F de BaaijDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Heterozygous pathogenic variants in the transcription factor GATA binding protein 3 ( Methods: Retrospective clinical and laboratory data from 66 patients with Results: The cohort was 47% female, median age was 16 years (0-74) and 56% had the full HDR triad. Overall, 25% had hypomagnesemia (Z-score: <-2). Magnesium levels did not correlate with parathyroid hormone (PTH), estimated glomerular filtration rate, genotype, or other phenotypic traits. ChIP-sequencing revealed GATA3 binding to promoters of the magnesium channel Conclusion: Hypomagnesemia is an underrecognized feature of HDR syndrome. Our findings suggest that pathogenic variants of

Indexed as

distal tubuleelectrolyte disordergenetic kidney diseasemagnesiumtranscription factor

Identifiers

PMID42894630
PMCPMC13677023

What OpenQuestion holds

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Registered trials

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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.