Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

• Main Authors: Evgenia Gurevich (Author), Shelly Levi (Author), Yael Borovitz (Author), Hadas Alfandary (Author), Liat Ganon (Author), Dganit Dinour (Author), Miriam Davidovits (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose: Hypercalcemia with low parathyroid hormone (PTH) level, hypercalciuria, nephrocalcinosis, or nephrolithiasis, was recently reported as caused by mutations in CYP24A1 and SLC34A genes. These encode for vitamin D-24A-hydroxylase and for the renal phosphate transporters NaPiIIa and NaPiIIc, re...