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

• 主要な著者: Tilman Jobst-Schwan (著者), Andrea Pannes (著者), Karl Peter Schlingmann (著者), Kai-Uwe Eckardt (著者), Bodo B. Beck (著者), Michael S. Wiesener (著者)
• フォーマット: 図書
• 出版事項: Karger Publishers, 2015-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...