X-Linked Hypophosphatemic Rickets: A Pediatric Case Report
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , |
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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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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000300170 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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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 |
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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 |
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1799137280856686592 |