Vitamin D Dependent Rickets Type I: Two Cases Report

Ulusoy E., DEMİR K., Altincik A., Catli G., ABACI A., Bekem Soylu O., ...More

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.32, no.6, pp.1786-1790, 2012 (SCI-Expanded) identifier identifier

  • 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, 1-ALPHA-HYDROXYLASE DEFICIENCY, DISORDERS, GENETICS
  • 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.