New insights into the pathogenesis of inherited phosphate wasting disorders

被引：26

作者：

Econs, MJ

机构：

[1] Indiana Univ, Sch Med, Dept Med, Indianapolis, IN 46202 USA

[2] Indiana Univ, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

来源：

BONE | 1999年 / 25卷 / 01期

关键词：

hypophosphatemia; PHEX; X-linked hypophosphatemic rickets; autosomal dominant hypophosphatemic rickets; familial hypophosphatemia; hypophosphatemic bone disease;

D O I：

10.1016/S8756-3282(99)00108-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets are inherited phosphate wasting disorders. X-linked hypophosphatemic rickets results from mutations in the PHEX gene, which codes for a protein that is a member of the neutral endopeptidase family. The gene that is responsible for autosomal dominant hypophosphatemic rickets has not get been identified, however, positional cloning studies have narrowed the gene locus to chromosome 12p13. This review will focus on the pathogenesis of these disorders and how these disorders provide insight into normal phosphate homeostasis. (C) 1999 by Elsevier Science Inc. All rights reserved.

引用

收藏

页码：131 / 135

页数：5

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