Mechanisms of Disease: Genetic Disorders of Renal Phosphate Transport.

被引：54

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

页码：2399 / 2409

页数：11

共 107 条

[1] Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: Formal histomorphometric and biomechanical analyses
Amling, M
Priemel, M
Holzmann, T
Chapin, K
Rueger, JM
Baron, R
Demay, MB
[J]. ENDOCRINOLOGY, 1999, 140 (11) : 4982 - 4987
[2] Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men
Antoniucci, Diana M.
Yamashita, Takeyoshi
Portale, Anthony A.
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (08) : 3144 - 3149
[3] A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis
Araya, K
Fukumoto, S
Backenroth, R
Takeuchi, Y
Nakayama, K
Ito, N
Yoshii, N
Yamazaki, Y
Yamashita, T
Silver, J
Igarashi, T
Fujita, T
[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (10) : 5523 - 5527
[4] The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency
Bai, XY
Miao, DS
Goltzman, D
Karaplis, AC
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (11) : 9843 - 9849
[5] Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
Baumber, L
Tufarelli, C
Patel, S
King, P
Johnson, CA
Maher, ER
Trembath, RC
[J]. JOURNAL OF MEDICAL GENETICS, 2005, 42 (05) : 443 - 448
[6] FORMATION,MINERALIZATION, AND RESORPTION OF BONE IN HYPOPHOSPHATEMIC RATS
BAYLINK, D
WERGEDAL, J
STAUFFER, M
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1971, 50 (12) : 2519 - +
[7] Inorganic phosphate as a signaling molecule in osteoblast differentiation
Beck, GR
[J]. JOURNAL OF CELLULAR BIOCHEMISTRY, 2003, 90 (02) : 234 - 243
[8] Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities
Beck, L
Karaplis, AC
Amizuka, N
Hewson, AS
Ozawa, H
Tenenhouse, HS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (09) : 5372 - 5377
[9] The parathyroid is a target organ for FGF23 in rats
Ben-Dov, Iddo Z.
Galitzer, Hillel
Lavi-Moshayoff, Vardit
Goetz, Regina
Kuro-o, Makoto
Mohammadi, Moosa
Sirkis, Roy
Naveh-Many, Tally
Silver, Justin
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (12) : 4003 - 4008
[10] An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
Benet-Pagès, A
Orlik, P
Strom, TM
Lorenz-Depiereux, B
[J]. HUMAN MOLECULAR GENETICS, 2005, 14 (03) : 385 - 390

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