Raquitismo hipofosfatémico hereditario con hipercalciuria

  • Catalina Barilari Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires
  • Ramón Exeni Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires
  • Adriana Santiago Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires
  • Karina Álvarez Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires
  • Carina Ciancaglini Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires
  • Aída Vázquez Departamento de Nefrología Infantil, Hospital Municipal del Niño de San Justo, Buenos Aires

Citas

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: presentation as hypercalciuria and nephrolithiasis. J Clin Endocrinol Metab. 2009;94(11):4433-8.

Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, et al. Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. J Clin Endocrinol Metab. 2010;95(11):E352-7.

Penido MG, Alon US. Hypophosphatemic rickets due to perturbations in renal tubular function. Pediatr Nephrol. 2014;29(3):361-73.

Rajah J, Thandrayen K, Pettifor JM. Clinical practice: diagnostic approach to the rachitic child. Eur J Pediatr. 2011;170(9):1089-96.

Penido MG, Alon US. Phosphate homeostasis and its role in bone health. Pediatr Nephrol. 2012;27(11):2039-48.

Gattineni J, Baum M. Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. Pediatr Nephrol. 2010;25(4):591-601.

Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. N

Engl J Med. 2010;362(12):1102-9.

Jüppner H, Wolf M, Salusky IB. FGF-23: More than a regulator of renal phosphate handling? J Bone Miner Res. 2010;25(10):2091-7.

Imel E, DiMeglio L, Hui SL, Carpenter T, Econs M. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating Fibroblast Growth Factor 23 concentrations. J Clin Endocrinol Metab. 2010; 95:1846-1850.

Areses- Trapote R, Lopes-Garcia JA, Ubetagoyena-Arrieta M, Eizaguirre A, Saez-Villaverde R. Hereditary hyphosphatemic rickets with hypercaliuria: a case report. Nefrologia.pre.2012; 32(4):529-34.

Hasani-Ranjbar S, Amoli MA, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiki P, et al. SLC4A3 intronic delection in a new kindred with hereditary

hyphosphatemic rickets with hypercaliuria. J Clinic Res Pediatri Endocrinol. 2012; 4(2): 89-93.

Aguirre Meñica M, Yanes L. Tubulopatias. Protoc Diagn Ter Pediatr. 2014; 1:135-53.

Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, et al. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with

hipercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab. 2012;97(10):E1978-1986.

Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hyphosphatemia and growth. Pediatr Nephrol. 2013; 28:5095-603.

Publicado
2017-04-24
Cómo citar
1.
Barilari C, Exeni R, Santiago A, Álvarez K, Ciancaglini C, Vázquez A. Raquitismo hipofosfatémico hereditario con hipercalciuria. Rev Nefrol Dial Traspl. [Internet]. 24 de abril de 2017 [citado 29 de marzo de 2024];35(3):168-72. Disponible en: http://vps-1689312-x.dattaweb.com/index.php/rndt/article/view/36
Sección
Casuística