New insights into X-linked hypophosphatemia

被引：8
|
作者：
Grieff, M
机构：
[1] Renal Division, Washington University, School of Medicine, St. Louis, MO 63110
来源：
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION | 1997年 / 6卷 / 01期
关键词：
D O I：
10.1097/00041552-199701000-00004
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
X-linked hypophosphatemia is a heritable form of rickets characterized biochemically by phosphaturia and abnormal bioactivation of vitamin D, Recent advances include the observation, using kidney cells from the X-linked hypophosphatemia mouse model (Hyp), that in-vitro renal phosphate transport is normal yet bone mineralization may be intrinsically abnormal, Of special interest is the identification of a gene (PEX) that is mutated in X-linked hypophosphatemic patients.
引用
收藏
页码：15 / 19
页数：5
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