Vitamin D-dependent Rickets – Case report [Abstract in English]

Detalhes bibliográficos
Autor(a) principal: Porto, Juliana Antola
Data de Publicação: 2006
Outros Autores: Piccoli, Cláudia, Salerno, Margareth, Henrique, Iara Thereza
Tipo de documento: Artigo
Idioma: por
eng
Título da fonte: Scientia Medica (Porto Alegre. Online)
Texto Completo: https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554
Resumo: Introduction: Rickets is defined as the failure of osteoid to calcify in a growing person. Vitamin D-dependent Rickets occurs when the metabolites of vitamin D are deficient, a relative easy manageable and avoidable etiology. Objective: To report a case and review literature about etiopathology and treatment of this condition. Case report: A two-years-old male patient, with no history of any medical condition, presents with progressive difficulty to walk. The child had normal exposition to ultraviolet light,was breastfed for 8 months, but has received no vitamin D oral supplement. On the physical examination there is an evident deformity of the bones, specially arms and legs. The metaphysis are larger than usual and an incurvation is seeing on the epiphysis. Laboratorial and imaging investigation leads to the diagnosis of Vitamin D-dependent Rickets. Discussion: There are many etiologies that leads to Rickets, like renal or liver’s diseases, primary disturbances or deficiency of the metabolism of calcium and phosphorus. Those etiologies usually provide a long period of investigation and treatment. The Vitamin D – dependent Rickets is therefore important because of it’s relative easy diagnosis and treatment, and specially because there is possibility to avoid it. KEY WORDS: RICKETS; VITAMIN D DEFICIENCY; DIETARY SUPPLEMENTS.
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spelling Vitamin D-dependent Rickets – Case report [Abstract in English]Raquitismo carencial – relato de casoIntroduction: Rickets is defined as the failure of osteoid to calcify in a growing person. Vitamin D-dependent Rickets occurs when the metabolites of vitamin D are deficient, a relative easy manageable and avoidable etiology. Objective: To report a case and review literature about etiopathology and treatment of this condition. Case report: A two-years-old male patient, with no history of any medical condition, presents with progressive difficulty to walk. The child had normal exposition to ultraviolet light,was breastfed for 8 months, but has received no vitamin D oral supplement. On the physical examination there is an evident deformity of the bones, specially arms and legs. The metaphysis are larger than usual and an incurvation is seeing on the epiphysis. Laboratorial and imaging investigation leads to the diagnosis of Vitamin D-dependent Rickets. Discussion: There are many etiologies that leads to Rickets, like renal or liver’s diseases, primary disturbances or deficiency of the metabolism of calcium and phosphorus. Those etiologies usually provide a long period of investigation and treatment. The Vitamin D – dependent Rickets is therefore important because of it’s relative easy diagnosis and treatment, and specially because there is possibility to avoid it. KEY WORDS: RICKETS; VITAMIN D DEFICIENCY; DIETARY SUPPLEMENTS. Introdução: O raquitismo é uma doença do tecido ósseo em formação, onde há falha na calcificação e conseguinte acúmulo de tecido osteóide. O raquitismo carencial é decorrente da deficiência dos precursores da vitamina D, sendo a causa de raquitismo mais facilmente evitável e tratável. Objetivo: Relatar um caso, revisar a etiopatogenia e o tratamento do raquitismo carencial. Relato de caso: Paciente masculino com 2 anos de idade, previamente hígido, consulta com dificuldade de deambular progressiva, até incapacidade total da marcha. A criança tinha exposição aos raios solares regularmente, recebeu aleitamento materno até os 8 meses, mas não fez uso de vitamina D profilática. Ao exame havia deformidade óssea evidente em membros superiores e inferiores, principalmente com alargamento das metáfises distais e encurvamento das epífises dos ossos longos. A investigação laboratorial e de imagem confirmaram raquitismo carencial. Discussão: Há uma grande variedade nas possíveis etiologias do raquitismo, sendo doenças renais, hepáticas, distúrbios primários ou deficiências no metabolismo do cálcio e fósforo algumas delas. A maioria dessas patologias exige um longo período de investigação e tratamento. O raquitismo carencial, entretanto, é uma condição de relativa facilidade para diagnóstico, manejo, e profilaxia, derivando daí, a importância do artigo. UNITERMOS: RAQUITISMO; DEFICIÊNCIA DE VITAMINA D; SUPLEMENTOS DIETÉTICOS. Editora da PUCRS - ediPUCRS2006-10-17info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de caso raro ou de especial interesseapplication/pdfapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554Scientia Medica; Vol. 15 No. 2 (2005)Scientia Medica; v. 15 n. 2 (2005)1980-61081806-5562reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSporenghttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554/1157https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554/7970Porto, Juliana AntolaPiccoli, CláudiaSalerno, MargarethHenrique, Iara Therezainfo:eu-repo/semantics/openAccess2012-06-26T14:17:25Zoai:ojs.revistaseletronicas.pucrs.br:article/1554Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2012-06-26T14:17:25Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false
dc.title.none.fl_str_mv Vitamin D-dependent Rickets – Case report [Abstract in English]
Raquitismo carencial – relato de caso
title Vitamin D-dependent Rickets – Case report [Abstract in English]
spellingShingle Vitamin D-dependent Rickets – Case report [Abstract in English]
Porto, Juliana Antola
title_short Vitamin D-dependent Rickets – Case report [Abstract in English]
title_full Vitamin D-dependent Rickets – Case report [Abstract in English]
title_fullStr Vitamin D-dependent Rickets – Case report [Abstract in English]
title_full_unstemmed Vitamin D-dependent Rickets – Case report [Abstract in English]
title_sort Vitamin D-dependent Rickets – Case report [Abstract in English]
author Porto, Juliana Antola
author_facet Porto, Juliana Antola
Piccoli, Cláudia
Salerno, Margareth
Henrique, Iara Thereza
author_role author
author2 Piccoli, Cláudia
Salerno, Margareth
Henrique, Iara Thereza
author2_role author
author
author
dc.contributor.author.fl_str_mv Porto, Juliana Antola
Piccoli, Cláudia
Salerno, Margareth
Henrique, Iara Thereza
description Introduction: Rickets is defined as the failure of osteoid to calcify in a growing person. Vitamin D-dependent Rickets occurs when the metabolites of vitamin D are deficient, a relative easy manageable and avoidable etiology. Objective: To report a case and review literature about etiopathology and treatment of this condition. Case report: A two-years-old male patient, with no history of any medical condition, presents with progressive difficulty to walk. The child had normal exposition to ultraviolet light,was breastfed for 8 months, but has received no vitamin D oral supplement. On the physical examination there is an evident deformity of the bones, specially arms and legs. The metaphysis are larger than usual and an incurvation is seeing on the epiphysis. Laboratorial and imaging investigation leads to the diagnosis of Vitamin D-dependent Rickets. Discussion: There are many etiologies that leads to Rickets, like renal or liver’s diseases, primary disturbances or deficiency of the metabolism of calcium and phosphorus. Those etiologies usually provide a long period of investigation and treatment. The Vitamin D – dependent Rickets is therefore important because of it’s relative easy diagnosis and treatment, and specially because there is possibility to avoid it. KEY WORDS: RICKETS; VITAMIN D DEFICIENCY; DIETARY SUPPLEMENTS.
publishDate 2006
dc.date.none.fl_str_mv 2006-10-17
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Relato de caso raro ou de especial interesse
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554
url https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554
dc.language.iso.fl_str_mv por
eng
language por
eng
dc.relation.none.fl_str_mv https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554/1157
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/1554/7970
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Editora da PUCRS - ediPUCRS
publisher.none.fl_str_mv Editora da PUCRS - ediPUCRS
dc.source.none.fl_str_mv Scientia Medica; Vol. 15 No. 2 (2005)
Scientia Medica; v. 15 n. 2 (2005)
1980-6108
1806-5562
reponame:Scientia Medica (Porto Alegre. Online)
instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS
instname_str Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron_str PUC_RS
institution PUC_RS
reponame_str Scientia Medica (Porto Alegre. Online)
collection Scientia Medica (Porto Alegre. Online)
repository.name.fl_str_mv Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
repository.mail.fl_str_mv scientiamedica@pucrs.br || editora.periodicos@pucrs.br
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