Donghi Valentina, Di Frenna Marianna, di Lascio Alessandra, Chiumello Giuseppe, Weber Giovanna
Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy.
J Pediatr Endocrinol Metab. 2011;24(9-10):801-5. doi: 10.1515/jpem.2011.214.
There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. Vitamin D dependent rickets type 1 (VDDR-I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH)2D) by the enzyme 1alpha-hydroxylase. Vitamin D dependent rickets type 2 (VDDR-II) is caused by a defect in the vitamin D receptor (VDR). We report cases of two African children affected by VDDR-I and VDDR-II, respectively. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets (NR) is the most common variety of the disease. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention.
有两种类型的维生素D依赖性佝偻病（VDDR）可导致儿童患佝偻病。1型维生素D依赖性佝偻病（VDDR-I）是由维生素D代谢的先天性缺陷引起的，该缺陷会干扰肾脏中由1α-羟化酶将骨化二醇（25OHD）转化为骨化三醇（1,25(OH)2D）的过程。2型维生素D依赖性佝偻病（VDDR-II）是由维生素D受体（VDR）缺陷引起的。我们分别报告了两名受VDDR-I和VDDR-II影响的非洲儿童病例。对这些遗传性佝偻病进行早期诊断具有挑战性，尤其是在营养性佝偻病（NR）是最常见疾病类型的发展中国家。及时诊断对于启动适当治疗、解决生化特征以及预防并发症（如可能需要手术干预的严重畸形）是必要的。
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