Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática

López-Romero, Luis Carlos; Broseta, José Jesús; Olmos, Elena Guillen; Devesa-Such, Ramón; Hernández-Jaras, Julio

doi:10.1016/j.reuma.2019.07.007

Cited by 5 publications

(4 citation statements)

References 3 publications

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“…1,2 Hypophosphatemic rickets is a rare genetic disease, with an approximate incidence of 1 per 20,000 births in the European population. 3,4 The most common form of hereditary hypophosphatemic rickets is X-linked (XLH, which accounts for approximately 80% of familial cases of hypophosphatemia). 5 Despite the typical phenotype of the disease, data on disease incidence remains limited due to its infrequent presentation.…”

Section: Discussionmentioning

confidence: 99%

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Cabrera¹,

Chacha²,

Reza-Albarrán

et al. 2022

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Cabrera¹,

Chacha²,

Reza-Albarrán

et al. 2022

Clinical Case Reports

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“…XLH is caused by altered function in the phosphate regulating gene homologous to endopeptidase on chromosome X (PHEX), located on chromosome Xp22.1. The encoded protein is predominantly expressed in osteoblasts, osteocytes, odontoblasts, and cementoblasts (teeth) [2][3][4][5]. Studies in animals indicate that PHEX deficiency results in increased secretion of phosphaturic hormone or fibroblast growth factor 23 (FGF23).…”

Section: Introductionmentioning

confidence: 99%

Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)

Cárdenas Aguilera,

Medina-Orjuela,

Meza-Martínez

et al. 2024

Rev. Colomb. Nefrol.

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Introduction: X-linked hypophosphatemic rickets is a hereditary condition causing disruptions in bone mineral homeostasis. The morbidity associated with this condition has exhibited variability in previous decades, possibly stemming from variations in case definitions and diagnostic confirmation procedures. Objective: Our aim was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Methodology: Integration of a literature review with a modified Delphi method, guided by expert consensus. Results: Following the screening and selection of 1041 documents, 41 were chosen to address the queries posed by the developer group. Experts, consulted through a modified Delphi consensus, endorsed 97 recommendations on the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Notably, the quality of the evidence was deemed to be low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up. In addition, it will help clarify the burden of the disease and improve health outcomes for this population.

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“…XLHR is caused by altered function in the phosphate regulating gene with homologies to endopeptidases on chromosome X (PHEX), located on chromosome Xp22.1. The encoded protein is predominantly expressed in osteoblasts, osteocytes, odontoblasts, and cementoblasts (teeth) (3)(4)(5)(6). Studies in animals indicate that PHEX de ciency results in increased secretion of phosphaturic hormone or broblast growth factor 23 (FGF23).…”

Section: Introductionmentioning

confidence: 99%

Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

Aguilera¹,

Orjuela

Meza

et al. 2023

Preprint

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Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population.

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Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática

Cited by 5 publications

References 3 publications

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)

Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

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