作者
Thomas O Carpenter
发表日期
1997/4/1
来源
Pediatric Clinics
卷号
44
期号
2
页码范围
443-466
出版商
Elsevier
简介
Initial descriptions of hypophosphatemic rickets emphasized the poor clinical response to vitamin D, rather than the distinctive finding of marked hypophosphatemia. Such early descriptions became the basis for nomenclature of the rachitic disorders; so the name vitamin D-resistant rickets was widely used before the recognition that many cases were secondary to renal phosphate wasting. The name, vitamin D-resistant rickets, was well-entrenched by the time a more physiologic description was suggested. To add to the confusion, a target organ form of vitamin D resistance is now well characterized and is caused by mutations in the 1, 25 (OH), D3 receptor gene, analogous to other hormone-resistant states. This disorder of the 1, 25 (OH), D receptor, previously named vitamin
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