Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)

Autores
Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.
Año de publicación
2004
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Aim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.
Fil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina
Fil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina
Fil: Mautalen, Carlos Alfredo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Gravano, J.C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Pardo Argerich, L.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Materia
HYPERCALCAEMIA
HYPERCALCIURIA
PAMIDRONATE
WILLIAMS-BEUREN SYNDROME
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/123128
Acceder
id CONICETDig_ea28cb246efb34158840e78198e9bee7
oai_identifier_str oai:ri.conicet.gov.ar:11336/123128
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)Oliveri, María BeatrizMastaglia, Silvina RosanaMautalen, Carlos AlfredoGravano, J.C.Pardo Argerich, L.HYPERCALCAEMIAHYPERCALCIURIAPAMIDRONATEWILLIAMS-BEUREN SYNDROMEhttps://purl.org/becyt/ford/3.5https://purl.org/becyt/ford/3Aim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.Fil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Mautalen, Carlos Alfredo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gravano, J.C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Pardo Argerich, L.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaWiley Blackwell Publishing, Inc2004-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/123128Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-10030803-5253CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/ 10.1080/08035250410026635info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2004.tb02703.xinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:46:19Zoai:ri.conicet.gov.ar:11336/123128instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:46:19.783CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
title Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
spellingShingle Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
Oliveri, María Beatriz
HYPERCALCAEMIA
HYPERCALCIURIA
PAMIDRONATE
WILLIAMS-BEUREN SYNDROME
title_short Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
title_full Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
title_fullStr Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
title_full_unstemmed Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
title_sort Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)
dc.creator.none.fl_str_mv Oliveri, María Beatriz
Mastaglia, Silvina Rosana
Mautalen, Carlos Alfredo
Gravano, J.C.
Pardo Argerich, L.
author Oliveri, María Beatriz
author_facet Oliveri, María Beatriz
Mastaglia, Silvina Rosana
Mautalen, Carlos Alfredo
Gravano, J.C.
Pardo Argerich, L.
author_role author
author2 Mastaglia, Silvina Rosana
Mautalen, Carlos Alfredo
Gravano, J.C.
Pardo Argerich, L.
author2_role author
author
author
author
dc.subject.none.fl_str_mv HYPERCALCAEMIA
HYPERCALCIURIA
PAMIDRONATE
WILLIAMS-BEUREN SYNDROME
topic HYPERCALCAEMIA
HYPERCALCIURIA
PAMIDRONATE
WILLIAMS-BEUREN SYNDROME
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.5
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Aim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.
Fil: Oliveri, María Beatriz. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina
Fil: Mastaglia, Silvina Rosana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. División Osteopatías; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina
Fil: Mautalen, Carlos Alfredo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Gravano, J.C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Pardo Argerich, L.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
description Aim: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). Results: We report a 14-mo-old male infant presenting hypercalcaemia, elfin face and other dysmorphological features of WBS, confirmed by the FISH fluorescent test. Due to the marked symptomatic hypercalcaemia, 13.0 mg/dl intravenous Pamidronate was administered in a single dose of 1 mg/kg. Two days later, serum calcium diminished to normal levels, and remained within normal range during 12 mo follow-up. Conclusion: Pamidronate appears to be effective in paediatric patients with WBS and hypercalcaemia.
publishDate 2004
dc.date.none.fl_str_mv 2004-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/123128
Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-1003
0803-5253
CONICET Digital
CONICET
url http://hdl.handle.net/11336/123128
identifier_str_mv Oliveri, María Beatriz; Mastaglia, Silvina Rosana; Mautalen, Carlos Alfredo; Gravano, J.C.; Pardo Argerich, L.; Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate); Wiley Blackwell Publishing, Inc; Acta Paediatrica; 93; 7; 7-2004; 1002-1003
0803-5253
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/ 10.1080/08035250410026635
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2004.tb02703.x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1844613447450361856
score 13.070432

Publicaciones similares