ArticleKidney international reports2019
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Article in Kidney international reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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.
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.
Who cites it
27 citing papers in PubMed, 57 citations in OpenAlex.
- Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.Pediatric nephrology (Berlin, Germany) · 2024Trial
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Systemic control of HNF1B-driven redox homeostasis by N6-adenosine methylation.Nucleic acids research · 2026Article
- Review
- Challenges in the management of patients with HNF1B MODY and multisystem manifestations: the cases of two adolescent boys.Hormones (Athens, Greece) · 2024Article
- Untangling the Uncertain Role of Overactivation of the Renin-Angiotensin-Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.International journal of molecular sciences · 2024Review
- Navigating the multifaceted intricacies of the NaPhysiological reviews · 2024Review
- Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.Stem cell reports · 2024Article
- A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion SyndromeJournal of clinical research in pediatric endocrinology · 2024Article
- Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.Journal of diabetes investigation · 2024Article
- Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.Internal medicine (Tokyo, Japan) · 2024Article
- HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia.BMJ case reports · 2023Article
- The term CAKUT has outlived its usefulness: the case for the prosecution.Pediatric nephrology (Berlin, Germany) · 2022Review
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.Kidney international reports · 2022Article
- Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.Pediatric nephrology (Berlin, Germany) · 2022Article
- Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters.Pflugers Archiv : European journal of physiology · 2022Review
- The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.Journal of the Endocrine Society · 2022Article
- The causes and consequences of paediatric kidney disease on adult nephrology care.Pediatric nephrology (Berlin, Germany) · 2022Review
- Building human renal tracts.Journal of pediatric surgery · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundMutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting with hypomagnesemia. The presence of hypomagnesemia has been proposed to help select appropriate patients for genetic testing. Yet, in a large cohort, hypomagnesemia was discriminatory only in adult, but not in pediatric patients. We therefore investigated whether hypomagnesemia and other biochemical changes develop with age.
methodsWe performed a retrospective analysis of clinical, biochemical, and genetic results of pediatric patients with renal malformations tested for
resultsA total of 199 patients underwent
conclusionsThe abnormal tubular electrolyte handling associated with
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.