Vitamin D dependent rickets type I and II: Case reports

被引：1

作者：

Gulez, Pamir ^{[1
]}

Hizarcioglu, Murat ^{[1
]}

机构：

[1] Dr Behcet Uz Cocuk Hastaliklari & Cerrahisi Egiti, Izmir, Turkey

来源：

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI | 2011年 / 1卷 / 03期

关键词：

Vitamin D dependent rickets; vitamin D resistant rickets; hypocalcemia;

D O I：

10.5222/buchd.2011.131

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Two rare genetic diseases can cause rickets in children. Alpha 1 hydroxylase enzyme is defective, and calcitriol can not be synthesized in vitamin D dependent rickets type 1 or pseudovitamin D deficiency. Vitamin D receptors are defective the disease is known as hereditary vitamin D resistant-rickets or 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 determination of serum 1.25(OH)2D levels. Patients with type 1 have lower 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 presented with two cases.

引用

页码：131 / 136

页数：6

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