Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
dc.contributor.author | Rodríguez Rubio, Enrique | |
dc.contributor.author | Gil Peña, Helena | |
dc.contributor.author | Chocron, Sara | |
dc.contributor.author | Madariaga Domínguez, Leire | |
dc.contributor.author | De la Cerda Ojeda, Francisco | |
dc.contributor.author | Fernández Fernández, Marta | |
dc.contributor.author | De Lucas Collantes, Carmen | |
dc.contributor.author | Gil, Marta | |
dc.contributor.author | Luis Yanes, María Isabel | |
dc.contributor.author | Vergara, Inés | |
dc.contributor.author | González Rodríguez, Juan David | |
dc.contributor.author | Ferrando, Susana | |
dc.contributor.author | Antón Gamero, Montserrat | |
dc.contributor.author | Carrasco Hidalgo-Barquero, Marta | |
dc.contributor.author | Fernández Escribano, Angustias | |
dc.contributor.author | Fernández Maseda, Mª Ángeles | |
dc.contributor.author | Espinosa, Laura | |
dc.contributor.author | Oliet, Aniana | |
dc.contributor.author | Vicente, Antonio | |
dc.contributor.author | Ariceta, Gema | |
dc.contributor.author | Santos, Fernando | |
dc.date.accessioned | 2021-03-10T13:28:50Z | |
dc.date.available | 2021-03-10T13:28:50Z | |
dc.date.issued | 2021-02-27 | |
dc.identifier.citation | Orphanet journal of rare diseases 16(1) : (2021) // Article ID 104 | es_ES |
dc.identifier.issn | 1750-1172 | |
dc.identifier.uri | http://hdl.handle.net/10810/50540 | |
dc.description.abstract | 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 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. RESULTS: The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3months to 8years and 2months of age at the time of diagnosis (median age of 2.0years), 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 7.42years (IQR=11.26; n=26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. CONCLUSIONS: 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. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | BMC | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | bone deformities | es_ES |
dc.subject | growth retardation | es_ES |
dc.subject | inherited hypophosphatemia | es_ES |
dc.subject | rickets | es_ES |
dc.subject | XLH | es_ES |
dc.title | Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01729-0 | es_ES |
dc.identifier.doi | 10.1186/s13023-021-01729-0 | |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Pediatria | es_ES |
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