Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis

• Main Authors: Tilman Jobst-Schwan (Author), Andrea Pannes (Author), Karl Peter Schlingmann (Author), Kai-Uwe Eckardt (Author), Bodo B. Beck (Author), Michael S. Wiesener (Author)
• Format: Knjiga
• Izdano: Karger Publishers, 2015-08-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Background/Aims: Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. Idiopathic infantile hypercalcemia is caused by mutations of the CYP24A1 gene, which regulates vitamin D activity. Classically infants present with hypercalcemia. Recently, a number of indivi...