Vitamin D Dependent Rickets Type I: Two Cases Report
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.32, no.6, pp.1786-1790, 2012 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 32 Issue: 6
- Publication Date: 2012
- Doi Number: 10.5336/medsci.2011-25349
- Journal Name: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.1786-1790
- Keywords: Rickets, calcitriol, vitamin D
- Dokuz Eylül University Affiliated: Yes
Abstract
Rickets is a group of diseases characterized by reduced mineralization of bone matrix in growing children. Although the most common cause is nutritional vitamin D deficiency, it may also appear as the result of hereditary diseases. Vitamin D-dependent rickets type I arises due to an autosomal recessive disturbance in renal 1 a-hydroxylase enzyme which converts 25(OH)D to 1,25(OH)2D. This condition is also called as pseudovitamin D deficiency. 25(OH)D level is normal but 1,25(OH) 2D level low. In this study, clinical and laboratory features of two cases aged 15 months and 2 years who were brought to Pediatric Endocrinology Clinic with different complaints and diagnosed with vitamin D-dependent rickets type I are presented and discussed.