Balsan S, Garabédian M
Hôpital Necker, Paris, France.
Curr Opin Rheumatol. 1991 Jun;3(3):496-502. doi: 10.1097/00002281-199106000-00025.
In the field of rickets and osteomalacia, progress has been made mainly in the mapping of vitamin D-dependency rickets or "pseudodeficiency rickets" type I to chromosome 12q14, and the further identification of a variety of abnormalities in the calcitriol receptor complex responsible for hereditary resistance to 1,25-dihydroxyvitamin D. The study of the molecular basis of this latter inherited disorder has important implications for a better understanding of the physiologic role of 1,25-dihydroxyvitamin D. Concerning osteopetrosis, the finding of a reverse transcriptase activity in a patient with the benign form of this disorder opens new perspectives such as the possibility that retroviral infection may be the origin of at least some type(s) of osteopetrosis. Moreover, impairment of macrophage colony-stimulating factor production appears to be a key event in the pathogenesis of the osteopetrotic op/op mutation in rodents.
在佝偻病和骨软化症领域，主要进展在于将I型维生素D依赖性佝偻病或“假性维生素D缺乏性佝偻病”定位到12号染色体长臂14区，以及进一步鉴定出负责遗传性1,25 - 二羟维生素D抵抗的钙三醇受体复合物中的多种异常情况。对后一种遗传性疾病分子基础的研究对于更好地理解1,25 - 二羟维生素D的生理作用具有重要意义。关于骨质石化症，在一名患有该疾病良性形式的患者中发现逆转录酶活性，这开辟了新的研究方向，例如逆转录病毒感染可能是至少某些类型骨质石化症病因的可能性。此外，巨噬细胞集落刺激因子产生受损似乎是啮齿动物骨质石化症op/op突变发病机制中的关键事件。
