Hereditary hypophosphatemic rickets with hypercalciuria: A case report;Raquitismo hipofosfatémico hereditario con hipercalciuria: A propósito de un caso

Nefrologia

Volumn 32, Issue 4, 2012, Pages 529-534

  Areses Trapote, Ramón ^a   López García, Juan A ^a   Ubetagoyena Arrieta, Mercedes ^a   Eizaguirre, Antxon ^a   Sáez Villaverde, Raquel ^a  

^a HOSPITAL DONOSTIA   (Spain)

Author keywords

HHRH; Hipofostatemia; Hypercalciuria; Hypophosphatemic tickets; Rickets osteomalacia

Indexed keywords

25 HYDROXYERGOCALCIFEROL; CALCITRIOL; CALCIUM; PARATHYROID HORMONE; PHOSPHORUS; SLC34A3 PROTEIN, HUMAN; SODIUM PHOSPHATE COTRANSPORTER 2C;

ARTICLE; BLOOD; CASE REPORT; CELL MEMBRANE; CHEMISTRY; CHRONIC KIDNEY FAILURE; GENETICS; GENOTYPE; HUMAN; HYPERCALCIURIA; INTRON; KIDNEY; KIDNEY CALCIFICATION; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ACIDOSIS; MALE; METABOLISM; MIDDLE AGED; NEPHROLITHIASIS; PATHOLOGY; PROGNOSIS; URINE; X LINKED HYPOPHOSPHATEMIC RICKETS;

25-HYDROXYVITAMIN D 2; ACIDOSIS, RENAL TUBULAR; CALCITRIOL; CALCIUM; CELL MEMBRANE; GENOTYPE; HUMANS; HYPERCALCIURIA; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; KIDNEY; KIDNEY FAILURE, CHRONIC; KIDNEY TUBULES, PROXIMAL; MALE; MIDDLE AGED; NEPHROCALCINOSIS; NEPHROLITHIASIS; PARATHYROID HORMONE; PHOSPHORUS; PROGNOSIS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 84867663425     PISSN: 02116995     EISSN: None     Source Type: Journal    
DOI: 10.3265/Nefrologia.pre2012.Apr.11321     Document Type: Article

References (25)

1. Sermet-Gaudelus I, Garabédian M, Dechaux M, Lenoir G, Rey J, Tieder M. Hereditary hypophophatemic rickets with hypercalciuria: Report of a new kindred. Nephron 2001;88:83-6.
2. Negri AL. Hereditary hypophosphatemias: New genes in the bonekidney axis. Nephrology 2007;12:317-20.
3. Shaikh A, Berndt T, Kumar R. Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. Pediatr Nephrol 2008;23:1203-10.
4. Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, et al. Hereditary hypophophatemic rickets with hypercalciuria. N Engl J Med 1985;312:611-7.
5. Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, et al. Idiopathic hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. N Engl J Med 1987;316:125-9.
6. Tieder M, Arie R, Bab I, Liberman UA. A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. Nephron 1992;62:176-81.
7. Nishiyama S, Inoue F, Matsudo I. A single case of hypophosphatemic rickets with hypercalciuria. J Pediatr Gastroenterol Nutr 1986;5:826-9.
8. Chen C, Carpenter T, Steg N, Baron R, Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989;84:276-80.
9. Navarro JF, Teruel JL, Montalban C, Gallego N, Ortuno J. Hypercalciuria secondary to chronic hypophosphatemia. Miner Electrolyte Metab 1994;20:255-8.
10. Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. Orphanet J Rare Dis 2010;5:1.
11. Chahin J, García Nieto V, Torres A, Gallego E, Muros M, León C, et al. Defecto parcial de acidificación en pacientes con litiasis renal, con capacidad intacta de descender el pH urinario. Nefrologia 1993;XIII:556-60.
12. Pak CYC, Kaplan R, Bone H, Townsend J, Waters O. A simple test diagnosis of absortive, resorptive and renal hypercalciurias. N Engl J Med 1975;292:497-500.
13. Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, et al. Hereditay hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 2006;78:193-201.
14. Bergwitz C, Roslin N, Tieder M, Loredo-Osti C, Bastepe M, Abu-Zahra H, et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodiumphosphate cotransporter NaPIIc in maintaining phosphate homeostasis. Am J Hum Genet 2006;78(2):179-92.
15. a ed. Madrid: Grupo Aula Médica; 2006. p. 161-79.
16. Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, et al. Hereditary hypophosphatemic rickets with hypercalciuria: a studhereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. J Bone Miner Metab 2007;25:407-13.
17. Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. Am J Med Genet A 2011;155A:626-33.
18. Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, et al. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/Type IIc sodium-phosphate cotransporter: Presentatión as hypercalciuria and nephrolithiasis. J Clin Endocrinol Metab 2009;94:4433-8.
19. Shiavi SC, Kurman R. The phosphatonin pathway: New insights in phosphate homeostasis. Kidney Int 2004;65:1-14.
20. Alon US. Fibroblast growth factor (FGF)23: a new hormone. Eur J Pediatr 2011;170:545-54.
21. The ADHR consortium. Autosomal dominant hypophosphatemic rickets is associated with mutations en FGF23. Nat Genet 2000;26:345-8.
22. Thakker RV. Phatogenesis of Dent́s, disease and related syndromes of X-linked nephrolithiasis. Kidney Int 2000;57:787-93.
23. García Nieto V, Monge M, Hernández L, Callejón A, Yanes MI, García VE. Estudio de la capacidad de acidificación renal en los niños diagnosticados de hipercalciuria idiopática. Nefrologia 2003;23:219-24.
24. Rodríguez Soriano J, Vallo Boado A. renal tubular acidosis. Pediatr Nephrol 1990;4:268-75.
25. Seikaly M, Browne R, Baum M. Nephrocalcinosis associatrd with renal tubular acidosis in children with X-linked hypophosphatemia. Pediatrics 1996;97:91-3.