Vitamin D-dependent Rickets – Case report [Abstract in English]
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , |
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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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 |
_version_ |
1809101748365688832 |