Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil

Detalhes bibliográficos
Autor(a) principal: Maia Filho, Josevaldo Monteiro
Data de Publicação: 2022
Outros Autores: Medeiros, Luana de Oliveira, Freitas, Abraão Pereira Assis de, Bringel, Ana Camila, Rodrigues, Joyce Maria Malheiro, Lima Filho, Marcos Roberto de Oliveira, Oliveira, Iasmim Chaves de, Ribeiro, Erlane Marques
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/28727
Resumo: Achondroplasia is a rare disease of autosomal dominant inheritance, caused by the replacement of the amino acid glycine by arginine at position 380, affecting the fibroblast growth factor 3 receptor (FGRF-3). Its characteristics are evident since intrauterine life, and are detectable by ultrasound. The aim of this study is to determine the main clinical changes in patients with achondroplasia. A review of the medical records of patients diagnosed with Achondroplasia was carried out from 2002 to 2018, followed up at the medical genetics service of a tertiary hospital in the state of Ceará - Brazil. Twenty-eight patients were included in the study. The average age of the patients, at first evaluation, was 26 months (0,5-140). 3 patients (10.7%) were born preterm, however 100% of the patients had a 5-minute APGAR above 7. The patients' main delays concerned to sitting (18%), walking (11%) and talking (11%). The most prevalent abnormalities were macrocrania, short limbs, hyperlordosis, trident fingers and breathing problems. In this study, a slight predominance of males was observed and, despite the delay in neurological development milestones, there were no changes in neurological and cognitive functions in most cases. The clinical changes observed correspond to those already known in the literature and should be recognized by the general practitioner, as well as by other professionals involved in the care of patients with achondroplasia, aiming at an early diagnosis of this condition for adequate treatment and genetic counseling.
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spelling Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast BrazilAspectos clínicos y epidemiológicos de la Acondroplasia: serie de casos del Nordeste de BrasilAspectos clínicos e epidemiológicos da Acondroplasia: uma série de casos do Nordeste brasileiroAcondroplasiaNanismoOsteocondrodisplasiasDoenças genéticas inatasPediatria.AchondroplasiaDwarfismOsteochondrodysplasiasInnate genetic diseasesPediatrics.AcondroplasiaEnanismoOsteocondrodisplasiasEnfermedades genéticas innatasPediatría.Achondroplasia is a rare disease of autosomal dominant inheritance, caused by the replacement of the amino acid glycine by arginine at position 380, affecting the fibroblast growth factor 3 receptor (FGRF-3). Its characteristics are evident since intrauterine life, and are detectable by ultrasound. The aim of this study is to determine the main clinical changes in patients with achondroplasia. A review of the medical records of patients diagnosed with Achondroplasia was carried out from 2002 to 2018, followed up at the medical genetics service of a tertiary hospital in the state of Ceará - Brazil. Twenty-eight patients were included in the study. The average age of the patients, at first evaluation, was 26 months (0,5-140). 3 patients (10.7%) were born preterm, however 100% of the patients had a 5-minute APGAR above 7. The patients' main delays concerned to sitting (18%), walking (11%) and talking (11%). The most prevalent abnormalities were macrocrania, short limbs, hyperlordosis, trident fingers and breathing problems. In this study, a slight predominance of males was observed and, despite the delay in neurological development milestones, there were no changes in neurological and cognitive functions in most cases. The clinical changes observed correspond to those already known in the literature and should be recognized by the general practitioner, as well as by other professionals involved in the care of patients with achondroplasia, aiming at an early diagnosis of this condition for adequate treatment and genetic counseling.La Acondroplasia es una rara enfermedad de herencia autosómica dominante, causada por la sustitución del aminoácido glicina por el aminoácido arginina en la posición 380, afectando al receptor 3 del factor de crecimiento de fibroblastos (FGRF- 3). Sus características son evidentes desde la vida intrauterina, siendo detectada por ecografía. El objetivo de este estudio es determinar los principales cambios clínicos en pacientes con Acondroplasia. Se realizó una revisión de las historias clínicas de pacientes diagnosticados con Acondroplasia entre 2002 y 2018, seguidos en el servicio de genética médica de un hospital público de tercer nivel, en el estado de Ceará - Brasil. Veintiocho pacientes fueron incluidos en el estudio. La edad media de los pacientes el día de la primera valoración fue de 26 meses (0,5-140). 3 pacientes (10,7%) nacieron prematuros, sin embargo el 100% de los pacientes tenían un APGAR de 5 minutos por encima de 7. Los principales retrasos de los pacientes fueron sentarse (18%), caminar (11%) y hablar (11%). Las anomalías más prevalentes fueron macrocráneo, extremidades cortas, hiperlordosis, dedos en tridente y problemas respiratorios. En este estudio se observó un ligero predominio del sexo masculino y, a pesar del retraso en los hitos del desarrollo neurológico, no hubo cambios en las funciones neurológicas y cognitivas en la mayoría de los casos. Los cambios clínicos observados corresponden a los que ya son conocidos en la literatura y deben ser reconocidos por el médico general, así como por otros profesionales que intervienen en el cuidado de pacientes con acondroplasia, visando un diagnóstico precoz de esta patología para una adecuada tratamiento y debido asesoramiento genético.A Acondroplasia é uma doença rara de herança autossômica dominante, causada pela substituição do aminoácido glicina pelo aminoácido arginina na posição 380, acometendo o receptor do fator de crescimento de fibroblastos 3 (FGRF-3). Suas características são evidentes desde a vida intrauterina, sendo detectadas pelo ultrassom. O objetivo deste estudo é determinar as principais alterações clínicas dos pacientes com Acondroplasia. Foi realizada revisão dos prontuários médicos dos pacientes com diagnóstico de Acondroplasia de 2002 a 2018, acompanhados no serviço de genética médica de um hospital público terciário, no estado do Ceará - Brasil. Foram incluídos no estudo 28 pacientes. A idade média dos pacientes, no dia da primeira avaliação, era de 26 meses (0,5-140). 3 pacientes (10,7%) nasceram pré-termo, contudo 100% dos pacientes obtiveram APGAR de 5 minutos acima de 7. Os principais atrasos dos pacientes foram para sentar (18%), andar (11%) e falar (11%). As anormalidades mais prevalentes foram macrocrania, membros curtos, hiperlordose, dedos em tridente e problemas respiratórios. Nesse estudo foi observado leve predomínio do sexo masculino e, apesar do atraso nos marcos de desenvolvimento neurológico, não houve alterações das funções neurológicas e cognitivas na maioria dos casos. As alterações clínicas observadas correspondem às que já são conhecidas na literatura e devem ser reconhecidas pelo médico generalista, como também pelos demais profissionais que estão envolvidos nos cuidados ao paciente com acondroplasia, visando um diagnóstico precoce dessa patologia para tratamento adequado e o devido aconselhamento genético.Research, Society and Development2022-04-23info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/2872710.33448/rsd-v11i6.28727Research, Society and Development; Vol. 11 No. 6; e12811628727Research, Society and Development; Vol. 11 Núm. 6; e12811628727Research, Society and Development; v. 11 n. 6; e128116287272525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/28727/25048Copyright (c) 2022 Josevaldo Monteiro Maia Filho; Luana de Oliveira Medeiros; Abraão Pereira Assis de Freitas; Ana Camila Bringel; Joyce Maria Malheiro Rodrigues; Marcos Roberto de Oliveira Lima Filho; Iasmim Chaves de Oliveira; Erlane Marques Ribeirohttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessMaia Filho, Josevaldo MonteiroMedeiros, Luana de OliveiraFreitas, Abraão Pereira Assis de Bringel, Ana CamilaRodrigues, Joyce Maria MalheiroLima Filho, Marcos Roberto de OliveiraOliveira, Iasmim Chaves deRibeiro, Erlane Marques2022-05-13T18:04:10Zoai:ojs.pkp.sfu.ca:article/28727Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:46:01.629383Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
Aspectos clínicos y epidemiológicos de la Acondroplasia: serie de casos del Nordeste de Brasil
Aspectos clínicos e epidemiológicos da Acondroplasia: uma série de casos do Nordeste brasileiro
title Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
spellingShingle Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
Maia Filho, Josevaldo Monteiro
Acondroplasia
Nanismo
Osteocondrodisplasias
Doenças genéticas inatas
Pediatria.
Achondroplasia
Dwarfism
Osteochondrodysplasias
Innate genetic diseases
Pediatrics.
Acondroplasia
Enanismo
Osteocondrodisplasias
Enfermedades genéticas innatas
Pediatría.
title_short Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
title_full Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
title_fullStr Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
title_full_unstemmed Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
title_sort Clinical and epidemiological aspects of Achondroplasia: a case series from Northeast Brazil
author Maia Filho, Josevaldo Monteiro
author_facet Maia Filho, Josevaldo Monteiro
Medeiros, Luana de Oliveira
Freitas, Abraão Pereira Assis de
Bringel, Ana Camila
Rodrigues, Joyce Maria Malheiro
Lima Filho, Marcos Roberto de Oliveira
Oliveira, Iasmim Chaves de
Ribeiro, Erlane Marques
author_role author
author2 Medeiros, Luana de Oliveira
Freitas, Abraão Pereira Assis de
Bringel, Ana Camila
Rodrigues, Joyce Maria Malheiro
Lima Filho, Marcos Roberto de Oliveira
Oliveira, Iasmim Chaves de
Ribeiro, Erlane Marques
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Maia Filho, Josevaldo Monteiro
Medeiros, Luana de Oliveira
Freitas, Abraão Pereira Assis de
Bringel, Ana Camila
Rodrigues, Joyce Maria Malheiro
Lima Filho, Marcos Roberto de Oliveira
Oliveira, Iasmim Chaves de
Ribeiro, Erlane Marques
dc.subject.por.fl_str_mv Acondroplasia
Nanismo
Osteocondrodisplasias
Doenças genéticas inatas
Pediatria.
Achondroplasia
Dwarfism
Osteochondrodysplasias
Innate genetic diseases
Pediatrics.
Acondroplasia
Enanismo
Osteocondrodisplasias
Enfermedades genéticas innatas
Pediatría.
topic Acondroplasia
Nanismo
Osteocondrodisplasias
Doenças genéticas inatas
Pediatria.
Achondroplasia
Dwarfism
Osteochondrodysplasias
Innate genetic diseases
Pediatrics.
Acondroplasia
Enanismo
Osteocondrodisplasias
Enfermedades genéticas innatas
Pediatría.
description Achondroplasia is a rare disease of autosomal dominant inheritance, caused by the replacement of the amino acid glycine by arginine at position 380, affecting the fibroblast growth factor 3 receptor (FGRF-3). Its characteristics are evident since intrauterine life, and are detectable by ultrasound. The aim of this study is to determine the main clinical changes in patients with achondroplasia. A review of the medical records of patients diagnosed with Achondroplasia was carried out from 2002 to 2018, followed up at the medical genetics service of a tertiary hospital in the state of Ceará - Brazil. Twenty-eight patients were included in the study. The average age of the patients, at first evaluation, was 26 months (0,5-140). 3 patients (10.7%) were born preterm, however 100% of the patients had a 5-minute APGAR above 7. The patients' main delays concerned to sitting (18%), walking (11%) and talking (11%). The most prevalent abnormalities were macrocrania, short limbs, hyperlordosis, trident fingers and breathing problems. In this study, a slight predominance of males was observed and, despite the delay in neurological development milestones, there were no changes in neurological and cognitive functions in most cases. The clinical changes observed correspond to those already known in the literature and should be recognized by the general practitioner, as well as by other professionals involved in the care of patients with achondroplasia, aiming at an early diagnosis of this condition for adequate treatment and genetic counseling.
publishDate 2022
dc.date.none.fl_str_mv 2022-04-23
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dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/28727
10.33448/rsd-v11i6.28727
url https://rsdjournal.org/index.php/rsd/article/view/28727
identifier_str_mv 10.33448/rsd-v11i6.28727
dc.language.iso.fl_str_mv por
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dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/28727/25048
dc.rights.driver.fl_str_mv https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 11 No. 6; e12811628727
Research, Society and Development; Vol. 11 Núm. 6; e12811628727
Research, Society and Development; v. 11 n. 6; e12811628727
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
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instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
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reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
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