X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

Detalhes bibliográficos
Autor(a) principal: Almeida,Isabel Rodrigues Leal Moitinho de
Data de Publicação: 2022
Outros Autores: Rodrigues,Ana Catarina Barbosa, Costa-Reis,Ana Patrícia, Stone,Maria Rosário Arriaga Câmara
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170
Resumo: ABSTRACT X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets. Short stature, limb deformities, dental anomalies, craniosynostosis and chronic pain are common in this disease. Recently, burosumab, a monoclonal antibody anti-fibroblast growth factor 23, was approved for the treatment of X-linked hypophosphatemic rickets. Awareness among clinicians must be increased to improve the care of these patients. We present a clinical case of a 4-year-old girl presented with deformities of the lower limbs and an abnormal gait, associated with hyperphosphaturia and hypophosphatemia. Asymptomatic Arnold Chiari malformation was identified. No dental problems were detected. The diagnosis of X-linked hypophosphatemic rickets was confirmed by the identification of a PHEX mutation. The patient developed diarrhea, nephrocalcinosis, and hyperparathyroidism secondary to conventional therapy with phosphate supplements. Burosumab was initiated with a fast increase on serum phosphate levels and a decrease on alkaline phosphatase. With the description of this case, we highlight the clinical manifestations and complications of X-linked hypophosphatemic rickets and its treatment and we discuss new treatment strategies to improve the quality of life of these patients.
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spelling X-Linked Hypophosphatemic Rickets: A Pediatric Case ReportAntibodies, Monoclonal, Humanized/therapeutic useBurosumabChildFamilial Hypophosphatemic Rickets/drug therapyABSTRACT X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets. Short stature, limb deformities, dental anomalies, craniosynostosis and chronic pain are common in this disease. Recently, burosumab, a monoclonal antibody anti-fibroblast growth factor 23, was approved for the treatment of X-linked hypophosphatemic rickets. Awareness among clinicians must be increased to improve the care of these patients. We present a clinical case of a 4-year-old girl presented with deformities of the lower limbs and an abnormal gait, associated with hyperphosphaturia and hypophosphatemia. Asymptomatic Arnold Chiari malformation was identified. No dental problems were detected. The diagnosis of X-linked hypophosphatemic rickets was confirmed by the identification of a PHEX mutation. The patient developed diarrhea, nephrocalcinosis, and hyperparathyroidism secondary to conventional therapy with phosphate supplements. Burosumab was initiated with a fast increase on serum phosphate levels and a decrease on alkaline phosphatase. With the description of this case, we highlight the clinical manifestations and complications of X-linked hypophosphatemic rickets and its treatment and we discuss new treatment strategies to improve the quality of life of these patients.Sociedade Portuguesa de Nefrologia2022-09-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170Portuguese Journal of Nephrology & Hypertension v.36 n.3 2022reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170Almeida,Isabel Rodrigues Leal Moitinho deRodrigues,Ana Catarina BarbosaCosta-Reis,Ana PatríciaStone,Maria Rosário Arriaga Câmarainfo:eu-repo/semantics/openAccess2024-02-06T17:05:14Zoai:scielo:S0872-01692022000300170Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:08.231189Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
title X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
spellingShingle X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
Almeida,Isabel Rodrigues Leal Moitinho de
Antibodies, Monoclonal, Humanized/therapeutic use
Burosumab
Child
Familial Hypophosphatemic Rickets/drug therapy
title_short X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
title_full X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
title_fullStr X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
title_full_unstemmed X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
title_sort X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
author Almeida,Isabel Rodrigues Leal Moitinho de
author_facet Almeida,Isabel Rodrigues Leal Moitinho de
Rodrigues,Ana Catarina Barbosa
Costa-Reis,Ana Patrícia
Stone,Maria Rosário Arriaga Câmara
author_role author
author2 Rodrigues,Ana Catarina Barbosa
Costa-Reis,Ana Patrícia
Stone,Maria Rosário Arriaga Câmara
author2_role author
author
author
dc.contributor.author.fl_str_mv Almeida,Isabel Rodrigues Leal Moitinho de
Rodrigues,Ana Catarina Barbosa
Costa-Reis,Ana Patrícia
Stone,Maria Rosário Arriaga Câmara
dc.subject.por.fl_str_mv Antibodies, Monoclonal, Humanized/therapeutic use
Burosumab
Child
Familial Hypophosphatemic Rickets/drug therapy
topic Antibodies, Monoclonal, Humanized/therapeutic use
Burosumab
Child
Familial Hypophosphatemic Rickets/drug therapy
description ABSTRACT X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets. Short stature, limb deformities, dental anomalies, craniosynostosis and chronic pain are common in this disease. Recently, burosumab, a monoclonal antibody anti-fibroblast growth factor 23, was approved for the treatment of X-linked hypophosphatemic rickets. Awareness among clinicians must be increased to improve the care of these patients. We present a clinical case of a 4-year-old girl presented with deformities of the lower limbs and an abnormal gait, associated with hyperphosphaturia and hypophosphatemia. Asymptomatic Arnold Chiari malformation was identified. No dental problems were detected. The diagnosis of X-linked hypophosphatemic rickets was confirmed by the identification of a PHEX mutation. The patient developed diarrhea, nephrocalcinosis, and hyperparathyroidism secondary to conventional therapy with phosphate supplements. Burosumab was initiated with a fast increase on serum phosphate levels and a decrease on alkaline phosphatase. With the description of this case, we highlight the clinical manifestations and complications of X-linked hypophosphatemic rickets and its treatment and we discuss new treatment strategies to improve the quality of life of these patients.
publishDate 2022
dc.date.none.fl_str_mv 2022-09-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170
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language eng
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
dc.source.none.fl_str_mv Portuguese Journal of Nephrology & Hypertension v.36 n.3 2022
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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