Article
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Orphanet journal of rare diseases - 27 Feb 2021
Rodríguez-Rubio Enrique, Gil-Peña Helena, Chocron Sara, Madariaga Leire, de la Cerda-Ojeda Francisco, Fernández-Fernández Marta, de Lucas-Collantes Carmen, Gil Marta, Luis-Yanes María Isabel, Vergara Inés, González-Rodríguez Juan David, Ferrando Susana, Antón-Gamero Montserrat, Carrasco Hidalgo-Barquero Marta, Fernández-Escribano Angustias, Fernández-Maseda Mº Ángeles, Espinosa Laura, Oliet Aniana, Vicente Antonio, Ariceta Gema, Santos Fernando
Abstract excerpt
BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the...
Topics
- Child
- Child, Preschool
- Familial Hypophosphatemic Rickets
- Female
- Genetic Diseases, X-Linked
- Humans
- Hypophosphatemia
- Male