Accidentally detected nephrocalcinosis in a boy with a homozygous R396W mutation in the CYP24A1 gene – 7-year follow-up

Nephrocalcinosis can manifest as frequent urination, haematuria and recurrent urinary tract infections, as well as a decrease in bone mineral density, increasing the risk of osteoporosis. Excessive urinary calcium excretion may have a genetic basis, including mutations within the genes encoding vita...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Pediatria Polska
المؤلفون الرئيسيون: Jakub Krzysztof Nowicki, Anna Maćkowska, Małgorzata Rychwalska, Marcin Zaniew, Elżbieta Jakubowska-Pietkiewicz
التنسيق: مقال
اللغة:الإنجليزية
منشور في: Termedia Publishing House 2023-12-01
الموضوعات:
paediatrics
bone density
calcium
nephrocalcinosis
vitamin d3 24-hydroxylase.
الوصول للمادة أونلاين:https://www.termedia.pl/Accidentally-detected-nephrocalcinosis-in-a-boy-with-a-homozygous-R396W-mutation-in-the-CYP24A1-gene-7-year-follow-up,127,51996,1,1.html

الانترنت

https://www.termedia.pl/Accidentally-detected-nephrocalcinosis-in-a-boy-with-a-homozygous-R396W-mutation-in-the-CYP24A1-gene-7-year-follow-up,127,51996,1,1.html

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