Hypomagnesemia is underestimated in children with HNF1B mutations.
| Title: | Hypomagnesemia is underestimated in children with HNF1B mutations. |
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| Authors: | Kołbuc M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. marcinkolbuc@gmail.com.; Leßmeier L; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Salamon-Słowińska D; Children's Hospital, Poznań, Poland.; Małecka I; Children's Hospital, Poznań, Poland.; Department of Preventive Medicine, Poznań University of Medical Sciences, Poznań, Poland.; Pawlaczyk K; Department of Nephrology, Transplantology and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland.; Department of Nephrology, University of Zielona Góra, Zielona Góra, Poland.; Walkowiak J; Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, Poznań, Poland.; Wysocki J; Children's Hospital, Poznań, Poland.; Department of Preventive Medicine, Poznań University of Medical Sciences, Poznań, Poland.; Beck BB; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. zaniewmarcin@wp.pl. |
| Source: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 Oct; Vol. 35 (10), pp. 1877-1886. Date of Electronic Publication: 2020 May 10. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE |
| Imprint Name(s): | Publication: Berlin : Springer International; Original Publication: Berlin : Springer International, c1987- |
| MeSH Terms: | Hepatocyte Nuclear Factor 1-beta/*genetics ; Magnesium/*blood ; Nephritis, Interstitial/*blood ; Urogenital Abnormalities/*blood ; Vesico-Ureteral Reflux/*blood; Kidney/metabolism ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/genetics ; Renal Reabsorption/genetics ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics ; Vesico-Ureteral Reflux/diagnosis ; Vesico-Ureteral Reflux/genetics ; Adolescent ; Age Factors ; Child ; Child, Preschool ; Cross-Sectional Studies ; DNA Mutational Analysis ; Female ; Humans ; Longitudinal Studies ; Male ; Mutation ; Reference Values ; Retrospective Studies ; Sex Factors |
| Abstract: | Background: Hypomagnesemia in patients with congenital anomalies of the kidneys and urinary tract or autosomal dominant tubulointerstitial kidney disease is highly suggestive of HNF1B-associated disease. Intriguingly, the frequency of low serum Mg2+ (sMg) level varies and is lower in children than in adults with HNF1B mutations that could be partially due to application of inaccurate normal limit of sMg, irrespective of age and gender. We aimed to re-assess cross-sectionally and longitudinally the frequency of hypomagnesemia in HNF1B disease by using locally derived reference values of sMg.; Methods: Fourteen children with HNF1B-associated kidney disease were included. Control group comprising 110 subjects served to generate 2.5th percentiles of sMg as the lower limits of normal.; Results: In both controls and patients, sMg correlated with age, gender, and fractional excretion of Mg2+. In girls, sMg concentration was higher than in boys when analyzed in the entire age spectrum (p |
| Contributed Indexing: | Keywords: ADTKD; CAKUT; FEMg; HNF1B; Hypomagnesemia; Magnesium |
| Substance Nomenclature: | 0 (HNF1B protein, human); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta); I38ZP9992A (Magnesium) |
| SCR Disease Name: | Cakut |
| Entry Date(s): | Date Created: 20200511 Date Completed: 20210702 Latest Revision: 20210702 |
| Update Code: | 20260130 |
| DOI: | 10.1007/s00467-020-04576-6 |
| PMID: | 32388583 |
| Database: | MEDLINE |
Journal Article