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

• Main Authors: Jakub Krzysztof Nowicki (Author), Anna Maćkowska (Author), Małgorzata Rychwalska (Author), Marcin Zaniew (Author), Elżbieta Jakubowska-Pietkiewicz (Author)
• Format: Book
• Published: Termedia Publishing House, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...