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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorRodríguez‑Rubio, Enrique
dc.contributor.authorGil‑Peña, Helena
dc.contributor.authorChocron de Benzaquen, Sara
dc.contributor.authorMadariaga, Leire
dc.contributor.authorde la Cerda‑Ojeda, Francisco
dc.contributor.authorFernández‑Fernández, Marta
dc.contributor.authorAriceta Iraola, Gema
dc.date.accessioned2021-05-14T12:26:43Z
dc.date.available2021-05-14T12:26:43Z
dc.date.issued2021-02-27
dc.identifier.citationRodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, et al. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population. Orphanet J Rare Dis. 2021 Feb 27;16:104.
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11351/5952
dc.descriptionBone deformities; Growth retardation; Inherited hypophosphatemia
dc.description.abstractBackground 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 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. 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.
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectOssos - Malalties, en els infants
dc.subjectRaquitisme
dc.subject.meshFamilial Hypophosphatemic Rickets
dc.subject.meshChild, Preschool
dc.titlePhenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-01729-0
dc.subject.decsraquitismo hipofosfatémico familiar
dc.subject.decsniño preescolar
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-01729-0
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Rodríguez-Rubio E] Pediatric Research, Medicine Department, University of Oviedo, Oviedo, Spain. [Gil-Peña H] AGC Pediatría, Hospital Universitario Central de Asturias, Oviedo, Spain. [Chocron S, Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Madariaga L] Servicio Nefrología Pediátrica, IIS Biocruces Bizkaia, Universidad del País Vasco UPV/EHU, Hospital Universitario Cruces, Barakaldo, Spain. [de la Cerda-Ojeda F] Unidad de Nefrología Pediátrica, Hospital Virgen del Rocío, Sevilla, Spain. [Fernández-Fernández M] Servicio Pediatría, Complejo Asistencial Universitario de León, León, Spain
dc.identifier.pmid33639975
dc.identifier.wos000624601700001
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2017-2020/PI17%2F01745
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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