Genetic disorders of renal phosphate transport [1]

New England Journal of Medicine

Volumn 363, Issue 18, 2010, Pages 1774-1775

  Magen, Daniella ^a   Zelikovic, Israel ^a   Skorecki, Karl ^a  

^a Rambam Health Care Campus ^*  (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM PHOSPHATE COTRANSPORTER 2A; NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PHOSPHATE; SIGNAL PEPTIDE; SLC34A1 PROTEIN, HUMAN;

FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATEMIC RICKETS; KIDNEY TUBULE ABSORPTION; LETTER; PHOSPHATE TRANSPORT; PRIORITY JOURNAL; GENETICS; HYPOPHOSPHATEMIA; INBORN ERROR OF METABOLISM; KIDNEY; MALE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; NOTE; SYNDROME; PHENOTYPE; X LINKED HYPOPHOSPHATEMIC RICKETS;

ABNORMALITIES, MULTIPLE; HUMANS; HYPOPHOSPHATEMIA; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; MALE; METABOLISM, INBORN ERRORS; MUTATION; NUCLEAR PROTEINS; PHOSPHATES; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA; SYNDROME; FANCONI SYNDROME; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; PHENOTYPE;

EID: 78049436242     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1008407     Document Type: Letter

References (5)

1. Prié D, Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med 2010;362:2399-409.
2. Prié D, Huart V, Bakouh N, et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 2002;347:983-91.
3. Virkki LV, Forster IC, Hernando N, Biber J, Murer H. Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. J Bone Miner Res 2003;18:2135-41. (Pubitemid 37463307)
4. Lapointe JY, Tessier J, Paquette Y, et al. NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int 2006;69:2261-7.
5. Magen D, Berger L, Coady MJ, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010;362:1102-9.