J Behcet Uz Child Hosp. 2011; 1(3): 131-136 | DOI: 10.5222/buchd.2011.131
Vıtamın D Dependent Rıckets Type I and II: Case Reports Pamir Gülez, Murat Hızarcıoğlu Dr. Behçet Uz Children's Hospital, İzmir Two rare genetic diseases can cause rickets in children. When 1 alpha hydroxylase is defective, calcitriol can not be synthesized. This disease is known as vitamin D dependent rickets type 1 or as psudovitamin D deficiency rickets. When vitamin D reseptor is defective the disease is known as hereditary vitamin D resistan rickets or as vitamin D dependent rickets type 2. Both diseases are rare autosomal recessive disorders, and characterized with hypocalcemia, elevated parathyroid hormone and alkaline phosphatase levels and similar clinical features as nutritional rickets. The differential diagnosis of these diseases can be made with serum 1,25(OH)2D levels. Patients with type 1 have low levels of 1,25(OH)2D, but patients with type 2 have increased levels of 1,25(OH)2D. In this article, these rare genetic diseases are reported with two cases. Keywords: Vitamin D dependent rickets, vitamine D resistant rickets, hypocalcemia Vitamin D Bağımlı Raşitizm Tip I ve Tip II: Olgu Sunumları Pamir Gülez, Murat Hızarcıoğlu Dr. Behçet Uz Çocuk Hastalıkları Ve Cerrahisi Eğitim Ve Araştırma Hastanesi, İzmir İki ender genetik hastalık çocuklarda raşitizme neden olur. Vitamin D bağımlı raşitizm tip 1 ya da diğer adıyla psödovitamin D eksikliğinde 1 alfa hidroksilaz enzimi kusurludur ve kalsitriol sentezlenemez. Vitamin D bağımlı raşitizm tip 2 ya da herediter vitamin D rezistan riketsde ise vitamin D reseptörleri kusurludur. Ender görülen ve otozomal resesif geçişli olan bu iki hastalık hipokalsemi, artmış parathormon ve alkalen fosfataz değerleri ve besinsel raşitizme benzer klinik bulgular ile karakterizedir. Bu iki hastalığın ayırıcı tanısında serum 1,25(OH)2D değerleri yol göstericidir. Tip 1’de 1,25(OH)2D değeri düşük iken, tip 2’de yüksektir. Bu makalede nadir görülen bu iki hastalık birer olgu ile sunulmuştur. Anahtar Kelimeler: Vitamin D bağımlı raşitizm, vitamin D rezistan raşitizm, hipokalsemi Pamir Gülez, Murat Hızarcıoğlu. Vıtamın D Dependent Rıckets Type I and II: Case Reports. J Behcet Uz Child Hosp. 2011; 1(3): 131-136 Corresponding Author: Pamir Gülez, Türkiye	TOOLS Full Text PDF Print Download citation RIS EndNote BibTex Medlars Procite Reference Manager Share with email Share Send email to author Similar articles PubMed Google Scholar  (21 accesses)  (8557 downloaded)

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