Hypomagnesemia is underestimated in children with HNF1B mutations
| العنوان: | Hypomagnesemia is underestimated in children with HNF1B mutations |
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| المؤلفون: | Jarosław Walkowiak, Krzysztof Pawlaczyk, Marcin Zaniew, Marcin Kołbuc, Bodo B. Beck, Lennart Leßmeier, Jacek Wysocki, Dorota Salamon-Słowińska, Ilona Małecka |
| المصدر: | Pediatric Nephrology. 35:1877-1886 |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, Nephrology, medicine.medical_specialty, Adolescent, Urinary system, DNA Mutational Analysis, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Kidney, Gastroenterology, Hypomagnesemia, Longitudinal observation, Excretion, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, stomatognathic system, Reference Values, Internal medicine, medicine, Humans, Magnesium, Longitudinal Studies, Child, Hepatocyte Nuclear Factor 1-beta, Retrospective Studies, Vesico-Ureteral Reflux, business.industry, Age Factors, medicine.disease, HNF1B, Renal Reabsorption, Cross-Sectional Studies, Child, Preschool, Urogenital Abnormalities, Mutation, Pediatrics, Perinatology and Child Health, Nephritis, Interstitial, Female, business, Kidney disease |
| الوصف: | 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. 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. 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 |
| تدمد: | 1432-198X 0931-041X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfcd1f0baae885a19dbc58a5bea1039Test https://doi.org/10.1007/s00467-020-04576-6Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....5cfcd1f0baae885a19dbc58a5bea1039 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1432198X 0931041X |
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