Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English]
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Scientia Medica (Porto Alegre. Online) |
Texto Completo: | https://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423 |
Resumo: | AIMS: Characterizing the genetic/clinical profile of patients diagnosed with Phenylketonuria in Alagoas, monitored by the National Program of Newborn Screening. METHODS: Patients with phenylketonuria, assisted by the Reference Center for Neonatal Screening of Alagoas, underwent blood sampling for detecting genetic determinants for the phenotypic variability of the disease. Concomitantly, patients or their guardians answered a standardized questionnaire for collection of clinical and epidemiological data. RESULTS: Twenty patients (14 males and 6 females), belonging to 18 families, were monitored. Age ranged from 3-31 (mean age 10.35).We found parental consanguinity in 3/18 families; familial recurrence was 3/18; 3/20 had late diagnosis; 2/20 interrupted treatment for some time; 1/20 did not adhere to treatment; and 6/20 had clinical manifestations. Analysis of mutations was concluded in 15/20 patients. Mutations found in the phenylalanine hydroxylase gene were: R261Q-homozygous (2 patients); V388M/I65T (1); R270K/V388M (1); I65T/L348V (1); IVS10nt11G>A-homozygous (2); V388M/R252W (1); R261Q/I65T (1); IVS10nt11G>A/R252W (1); V388M/IVS10nt11G>A (3); R261Q/R252W (1); R261Q/V388M (1). CONCLUSIONS: V388M/IVS10nt11G>A was the most prevailing genotype. Thirty percent of patients were symptomatic, probably due to the nature of mutations, non-adherence to treatment, inadequate treatment and/or late diagnosis. |
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Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English]Caracterização genético-clínica de pacientes com fenilcetonúria no estado de AlagoasPHENYLKETONURIAPHENYLALANINE HYDROXYLASEAMINO ACID METABOLISMINBORN ERRORSGENOTYPEFENOTYPENEONATAL SCREENINGMUTATIONINTELLECTUAL DISABILITYPROGNOSIS.FENILCETONÚRIAFENILALANINA HIDROXILASEERROS INATOS DO METABOLISMO DOS AMINOÁCIDOSGENÓTIPOFENÓTIPOTRIAGEM NEONATALMUTAÇÃORETARDO MENTALPROGNÓSTICO.AIMS: Characterizing the genetic/clinical profile of patients diagnosed with Phenylketonuria in Alagoas, monitored by the National Program of Newborn Screening. METHODS: Patients with phenylketonuria, assisted by the Reference Center for Neonatal Screening of Alagoas, underwent blood sampling for detecting genetic determinants for the phenotypic variability of the disease. Concomitantly, patients or their guardians answered a standardized questionnaire for collection of clinical and epidemiological data. RESULTS: Twenty patients (14 males and 6 females), belonging to 18 families, were monitored. Age ranged from 3-31 (mean age 10.35).We found parental consanguinity in 3/18 families; familial recurrence was 3/18; 3/20 had late diagnosis; 2/20 interrupted treatment for some time; 1/20 did not adhere to treatment; and 6/20 had clinical manifestations. Analysis of mutations was concluded in 15/20 patients. Mutations found in the phenylalanine hydroxylase gene were: R261Q-homozygous (2 patients); V388M/I65T (1); R270K/V388M (1); I65T/L348V (1); IVS10nt11G>A-homozygous (2); V388M/R252W (1); R261Q/I65T (1); IVS10nt11G>A/R252W (1); V388M/IVS10nt11G>A (3); R261Q/R252W (1); R261Q/V388M (1). CONCLUSIONS: V388M/IVS10nt11G>A was the most prevailing genotype. Thirty percent of patients were symptomatic, probably due to the nature of mutations, non-adherence to treatment, inadequate treatment and/or late diagnosis.OBJETIVOS: Caracterizar o perfil genético-clínico de pacientes com fenilcetonúria em Alagoas, diagnosticados e acompanhados pelo Programa Nacional de Triagem Neonatal. MÉTODOS: Pacientes com fenilcetonúria, assistidos pelo Serviço de Referência em Triagem Neonatal de Alagoas, foram submetidos a coleta de sangue para rastrear mutações genéticas determinantes da variação fenotípica da doença. Concomitantemente, os pacientes ou seus responsáveis responderam a um questionário padronizado para coleta de dados clínicos e epidemiológicos. RESULTADOS: Foram acompanhados 20 pacientes, sendo 14 do sexo masculino e seis do sexo feminino, pertencentes a 18 famílias. A idade dos pacientes estudados variou de 3 a 31 anos. Houve consanguinidade parental em 3/18 famílias; recorrência familial 3/18; 3/20 tiveram diagnóstico tardio; 2/20 interromperam temporariamente o tratamento; 1/20 não aderiu ao tratamento; e 6/20 apresentam manifestações clínicas. A análise das mutações foi concluída em 15/20 pacientes. As mutações encontradas no gene da fenilalanina hidroxilase foram: R261Q-homozigose (2 pacientes); V388M/I65T (1); R270K/V388M (1); I65T/L348V (1); IVS10nt11G>A-homozigose (2); V388M/R252W (1); R261Q/I65T (1); IVS10nt11G>A/R252W (1); V388M/IVS10nt11G>A (3); R261Q/R252W (1); R261Q/V388M (1). CONCLUSÕES: O genótipo V388M/IVS10nt11G>A foi o mais prevalente. Trinta por cento dos pacientes foram sintomáticos, provavelmente pela natureza das mutações, não adesão ao tratamento, tratamento inadequado e/ou diagnóstico tardio.Editora da PUCRS - ediPUCRS2012-07-27info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423Scientia Medica; Vol. 22 No. 2 (2012); 64-70Scientia Medica; v. 22 n. 2 (2012); 64-701980-61081806-5562reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSporhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423/8151Santos, Emerson de SantanaRocha, Maria Alzira AlmeidaOliveira, Helen Mayara Nunes da SilvaCosta, DorianeAmorim, TatianaAcosta, Angelina Xavierinfo:eu-repo/semantics/openAccess2015-10-04T14:15:15Zoai:ojs.revistaseletronicas.pucrs.br:article/10423Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2015-10-04T14:15:15Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false |
dc.title.none.fl_str_mv |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] Caracterização genético-clínica de pacientes com fenilcetonúria no estado de Alagoas |
title |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
spellingShingle |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] Santos, Emerson de Santana PHENYLKETONURIA PHENYLALANINE HYDROXYLASE AMINO ACID METABOLISM INBORN ERRORS GENOTYPE FENOTYPE NEONATAL SCREENING MUTATION INTELLECTUAL DISABILITY PROGNOSIS. FENILCETONÚRIA FENILALANINA HIDROXILASE ERROS INATOS DO METABOLISMO DOS AMINOÁCIDOS GENÓTIPO FENÓTIPO TRIAGEM NEONATAL MUTAÇÃO RETARDO MENTAL PROGNÓSTICO. |
title_short |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
title_full |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
title_fullStr |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
title_full_unstemmed |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
title_sort |
Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil [Abstract in English] |
author |
Santos, Emerson de Santana |
author_facet |
Santos, Emerson de Santana Rocha, Maria Alzira Almeida Oliveira, Helen Mayara Nunes da Silva Costa, Doriane Amorim, Tatiana Acosta, Angelina Xavier |
author_role |
author |
author2 |
Rocha, Maria Alzira Almeida Oliveira, Helen Mayara Nunes da Silva Costa, Doriane Amorim, Tatiana Acosta, Angelina Xavier |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Santos, Emerson de Santana Rocha, Maria Alzira Almeida Oliveira, Helen Mayara Nunes da Silva Costa, Doriane Amorim, Tatiana Acosta, Angelina Xavier |
dc.subject.por.fl_str_mv |
PHENYLKETONURIA PHENYLALANINE HYDROXYLASE AMINO ACID METABOLISM INBORN ERRORS GENOTYPE FENOTYPE NEONATAL SCREENING MUTATION INTELLECTUAL DISABILITY PROGNOSIS. FENILCETONÚRIA FENILALANINA HIDROXILASE ERROS INATOS DO METABOLISMO DOS AMINOÁCIDOS GENÓTIPO FENÓTIPO TRIAGEM NEONATAL MUTAÇÃO RETARDO MENTAL PROGNÓSTICO. |
topic |
PHENYLKETONURIA PHENYLALANINE HYDROXYLASE AMINO ACID METABOLISM INBORN ERRORS GENOTYPE FENOTYPE NEONATAL SCREENING MUTATION INTELLECTUAL DISABILITY PROGNOSIS. FENILCETONÚRIA FENILALANINA HIDROXILASE ERROS INATOS DO METABOLISMO DOS AMINOÁCIDOS GENÓTIPO FENÓTIPO TRIAGEM NEONATAL MUTAÇÃO RETARDO MENTAL PROGNÓSTICO. |
description |
AIMS: Characterizing the genetic/clinical profile of patients diagnosed with Phenylketonuria in Alagoas, monitored by the National Program of Newborn Screening. METHODS: Patients with phenylketonuria, assisted by the Reference Center for Neonatal Screening of Alagoas, underwent blood sampling for detecting genetic determinants for the phenotypic variability of the disease. Concomitantly, patients or their guardians answered a standardized questionnaire for collection of clinical and epidemiological data. RESULTS: Twenty patients (14 males and 6 females), belonging to 18 families, were monitored. Age ranged from 3-31 (mean age 10.35).We found parental consanguinity in 3/18 families; familial recurrence was 3/18; 3/20 had late diagnosis; 2/20 interrupted treatment for some time; 1/20 did not adhere to treatment; and 6/20 had clinical manifestations. Analysis of mutations was concluded in 15/20 patients. Mutations found in the phenylalanine hydroxylase gene were: R261Q-homozygous (2 patients); V388M/I65T (1); R270K/V388M (1); I65T/L348V (1); IVS10nt11G>A-homozygous (2); V388M/R252W (1); R261Q/I65T (1); IVS10nt11G>A/R252W (1); V388M/IVS10nt11G>A (3); R261Q/R252W (1); R261Q/V388M (1). CONCLUSIONS: V388M/IVS10nt11G>A was the most prevailing genotype. Thirty percent of patients were symptomatic, probably due to the nature of mutations, non-adherence to treatment, inadequate treatment and/or late diagnosis. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012-07-27 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423 |
url |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/10423/8151 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
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. 22 No. 2 (2012); 64-70 Scientia Medica; v. 22 n. 2 (2012); 64-70 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_ |
1809101749607202816 |