Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Rodríguez-Rubio, Enrique (University of Oviedo. Pediatric Research, Medicine Department)
Gil-Peña, Helena (Hospital Universitario Central de Asturias)
Chocron, Sara (Hospital Universitari Vall d'Hebron)
Madariaga, Leire (Instituto de Investigación Sanitaria Biocruces Bizkaia)
de la Cerda-Ojeda, Francisco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Fernández-Fernández, Marta (Complejo Asistencial Universitario de León. Servicio Pediatría)
de Lucas-Collantes, Carmen (Hospital Infantil Universitario Niño Jesús (Madrid))
Gil, Marta (Complejo Hospitalario Universitario de Santiago de Compostela)
Luis-Yanes, María Isabel (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Vergara, Inés (Complejo Hospitalario Universitario de A Coruña)
González-Rodríguez, Juan David (Hospital General Universitario Santa Lucía (Cartagena, Múrcia))
Ferrando, Susana (Hospital Clínic Universitari (València))
Antón-Gamero, Montserrat (Hospital Universitario Reina Sofía (Còrdova, Espanya))
Carrasco Hidalgo-Barquero, Marta (Complejo Hospitalario Universitario de Badajoz)
Fernández-Escribano, Angustias (Hospital General Universitario Gregorio Marañón)
Fernández-Maseda, Mº Ángeles (Hospital Virgen de la Salud (Toledo))
Espinosa, Laura (Hospital Universitario infantil La Paz (Madrid))
Oliet, Aniana (Hospital Universitario Severo Ochoa)
Vicente, Antonio (Hospital Vega Baja (Oriola, Alacant))
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron)
Santos, Fernando (Hospital Universitario Central de Asturias)
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	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 disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH. The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3 months to 8 years and 2 months of age at the time of diagnosis (median age of 2. 0 years), and with XLH confirmed by genetic analysis. Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. Mean (± SEM) height was − 1. 89 ± 0. 19 SDS and 55% (22/40) of patients had height SDS below-2. All cases had hypophosphatemia, serum phosphate being − 2. 81 ± 0. 11 SDS. Clinical manifestations and severity of the disease were similar in both genders. No genotype-phenotype correlation was found. Conventional treatment did not attenuate growth retardation after a median follow up of 7. 42 years (IQR = 11. 26; n = 26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. The severity of the disease was similar in males and females.
Grants:	Instituto de Salud Carlos III PI17/01745
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	XLH ; Inherited hypophosphatemia ; Growth retardatio ; Bone deformities ; Rickets
Published in:	Orphanet Journal of Rare Diseases, Vol. 16 (february 2021) , ISSN 1750-1172

Correcció de l'article: https://ddd.uab.cat/record/255395
DOI: 10.1186/s13023-021-01729-0
PMID: 33639975

12 p, 1.2 MB

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