Article
Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.
Frontiers in endocrinology - 1 Jan 2024
Leszczyńska Dorota, Szatko Alicja, Latocha Julia, Kochman Magdalena, Duchnowska Maria, Wójcicka Anna, Misiorowski Waldemar, Zgliczyníski Wojciech, Glinicki Piotr
Abstract excerpt
Introduction: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms...
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