Vitamin D Dependent Rickets Type I: Two Cases Report

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

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.32, sa.6, ss.1786-1790, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.5336/medsci.2011-25349
  • Dergi Adı: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1786-1790
  • Anahtar Kelimeler: Rickets, calcitriol, vitamin D, 1-ALPHA-HYDROXYLASE DEFICIENCY, DISORDERS, GENETICS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.