1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis | Zendy

Galiesterova | Zendy; May Christine V. Malicdan | Zendy; Kaori Yasuda | Zendy; Toshiyuki Sakaki | Zendy; Thierry Vilboux | Zendy; Carla Ciccone | Zendy; Ronald L. Horst | Zendy; Yan Huang | Zendy; Gretchen Golas | Zendy; Wendy J. Introne | Zendy; Marjan Huizing | Zendy; David R. Adams | Zendy; Cornelius F. Boerkoel | Zendy; Michael T. Collins | Zendy; William A. Gahl | Zendy

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Author(s) -

Galiesterova,

May Christine V. Malicdan,

Kaori Yasuda,

Toshiyuki Sakaki,

Thierry Vilboux,

Carla Ciccone,

Ronald L. Horst,

Yan Huang,

Gretchen Golas,

Wendy J. Introne,

Marjan Huizing,

David R. Adams,

Cornelius F. Boerkoel,

Michael T. Collins,

William A. Gahl

Publication year - 2013

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.05360512

Subject(s) - cyp24a1 , hypercalciuria , nephrocalcinosis , vitamin d and neurology , medicine , endocrinology , vitamin d deficiency , parathyroid hormone , tubulopathy , calcitriol receptor , calcium , kidney disease , kidney

Elevated serum vitamin D with hypercalciuria can result in nephrocalcinosis and nephrolithiasis. This study evaluated the cause of excess 1,25-dihydroxycholecalciferol (1α,25(OH)2D3) in the development of those disorders in two individuals.

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