Mechanisms of Disease: Genetic Disorders of Renal Phosphate Transport.

被引：53
|
作者：
Prie, Dominique [1 ,2 ,3 ]
Friedlander, Gerard [1 ,2 ,4 ]
机构：
[1] Paris Descartes Univ, INSERM, U845, Growth & Signaling Res Ctr, F-75015 Paris, France
[2] Paris Descartes Univ, INSERM, U845, Dept Physiol, F-75015 Paris, France
[3] Hop Necker Enfants Malad, Assistance Publ Hop Paris, Serv Physiol Explorat Fonct, Paris, France
[4] Georges Pompidou European Hosp, Assistance Publ Hop Paris, Serv Physiol Explorat Fonct, Paris, France
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2010年 / 362卷 / 25期
关键词：
GROWTH-FACTOR; 23; FAMILIAL ISOLATED HYPOPARATHYROIDISM; MINERAL ION HOMEOSTASIS; HORMONE-RELATED PEPTIDE; PARATHYROID-HORMONE; TUMORAL CALCINOSIS; SERUM PHOSPHORUS; INTACT FIBROBLAST-GROWTH-FACTOR-23; 1-ALPHA; 25-DIHYDROXYVITAMIN D-3; HYPOPHOSPHATEMIC RICKETS;
D O I：
10.1056/NEJMra0904186
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
This review recounts the molecular mechanisms that control serum phosphate levels and describes the clinical consequences of abnormalities of these mechanisms. Several proteins in the kidney participate in reabsorption of urinary phosphate; the review describes mutations in the genes that encode these proteins, and the syndromes they produce. Copyright © 2010 Massachusetts Medical Society.
引用
收藏
页码：2399 / 2409
页数：11
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