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Vıtamın D Dependent Rıckets Type I and II: Case Reports [Behcet Uz Cocuk Hast Derg]
Behcet Uz Cocuk Hast Derg. 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. Behcet Uz Cocuk Hast Derg. 2011; 1(3): 131-136

Corresponding Author: Pamir Gülez, Türkiye


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