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Hypomagnesemia is underestimated in children with HNF1B mutations

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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 < 0.05). In HNF1B patients, mean sMg was lower than in controls as compared with respective gender- and age-specific interval (p < 0.001). Low sMg levels (< 0.7 mmol/l) were found in 21.4% of patients at diagnosis and 36.4% at last visit, which rose to 85.7% and 72.7% respectively when using the age- and gender-adjusted reference data. Similarly, in the longitudinal observation, 23% of sMg measurements were < 0.7 mmol/l versus 79.7% when applying respective references.

Conclusions

Hypomagnesemia is underdiagnosed in children with HNF1B disease. sMg levels are age- and gender-dependent; thus, the use of appropriate reference data is crucial to hypomagnesemia in children.

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Acknowledgments

The authors are grateful to Dr. Ewa Elenberg (Baylor College of Medicine, Houston, Texas, USA) for her critical review of the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland

    Marcin Kołbuc & Marcin Zaniew

  2. Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany

    Lennart Leßmeier & Bodo B. Beck

  3. Children’s Hospital, Poznań, Poland

    Dorota Salamon-Słowińska, Ilona Małecka & Jacek Wysocki

  4. Department of Preventive Medicine, Poznań University of Medical Sciences, Poznań, Poland

    Ilona Małecka & Jacek Wysocki

  5. Department of Nephrology, Transplantology and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland

    Krzysztof Pawlaczyk

  6. Department of Nephrology, University of Zielona Góra, Zielona Góra, Poland

    Krzysztof Pawlaczyk

  7. Department of Pediatric Gastroenterology and Metabolic Diseases, Poznań University of Medical Sciences, Poznań, Poland

    Jarosław Walkowiak

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  1. Marcin Kołbuc
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Correspondence to Marcin Kołbuc or Marcin Zaniew.

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Informed consent from the study subjects has been waived due to the retrospective nature of the study. The study was conducted in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration.

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Kołbuc, M., Leßmeier, L., Salamon-Słowińska, D. et al. Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol 35, 1877–1886 (2020). https://doi.org/10.1007/s00467-020-04576-6

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  • DOI: https://doi.org/10.1007/s00467-020-04576-6

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