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遗传性维生素D依赖性佝偻病Ⅱ型是一种罕见的常染色体隐性遗传性疾病,主要临床特征为严重佝偻病表现、低钙血症、1,25(OH)2D3明显增高。维生素D受体是核内生物大分子,在细胞内与1,25(OH)2D3结合对结构基因表达进行调节,维生素D受体基因上的点突变可引起遗传性维生素D依赖性佝偻病Ⅱ型。该文简要综述了近年来维生素D受体与遗传性维生素D依赖性佝偻病Ⅱ型的研究进展。
Hereditary vitamin D-dependent rickets type Ⅱ is a rare autosomal recessive genetic disease, the main clinical features of severe rickets, hypocalcemia, 1,25 (OH) 2D3 was significantly higher. Vitamin D receptor is a biological macromolecule in the nucleus that regulates the expression of structural genes in cells with 1,25 (OH) 2D3. Point mutations in the gene of vitamin D receptor can cause genetic vitamin D-dependent rickets type II . This article briefly reviewed the research progress of vitamin D receptor and hereditary vitamin D-dependent rickets type Ⅱ in recent years.