Open AccessShort- and Long-Term Outcome of Patients with Pseudo-Vitamin D Deficiency Rickets Treated with Calcitriol
Author(s) -
Thomas Édouard,
Nathalie Alos,
Gilles Chabot,
Peter J. Roughley,
Francis H. Glorieux,
Frank Rauch
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2010-1340
Subject(s) - calcitriol , medicine , rickets , vitamin d and neurology , endocrinology , vitamin d deficiency , pediatrics
Pseudo-vitamin D deficiency rickets (PDDR; OMIM 264700) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, leading to an inability to synthesize 1α,25-dihydroxyvitamin D(3) (calcitriol). The long-term (>1 yr) effects of calcitriol replacement treatment have not been reported.
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