Publicação
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
| Resumo: | Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis. |
|---|---|
| Autores principais: | Poloni,Soraia |
| Outros Autores: | Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.; Kim,Chong A.; Souza,Carolina F. M. de; Rocha,Helio; Ribeiro,Marcia; Steiner,Carlos E.; Moreno,Carolina A.; Bernardi,Pricila; Valadares,Eugenia; Artigalas,Osvaldo; Carvalho,Gerson; Wanderley,Hector Y. C.; D’Almeida,Vânia; Santana-da-Silva,Luiz C.; Blom,Henk J.; Schwartz,Ida V. D. |
| Assunto: | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| Ano: | 2018 |
| País: | Brasil |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | IBICT |
| Idioma: | inglês |
| Origem: | Oasisbr |
| _version_ | 1871511669507620864 |
|---|---|
| author | Poloni,Soraia |
| author2 | Hoss,Giovana W. Sperb-Ludwig,Fernanda Borsatto,Taciane Doriqui,Maria Juliana R. Leão,Emília K.E.A Boa-Sorte,Ney Lourenço,Charles M. Kim,Chong A. Souza,Carolina F. M. de Rocha,Helio Ribeiro,Marcia Steiner,Carlos E. Moreno,Carolina A. Bernardi,Pricila Valadares,Eugenia Artigalas,Osvaldo Carvalho,Gerson Wanderley,Hector Y. C. D’Almeida,Vânia Santana-da-Silva,Luiz C. Blom,Henk J. Schwartz,Ida V. D. |
| author2_role | author author author author author author author author author author author author author author author author author author author author author author |
| author_facet | Poloni,Soraia Hoss,Giovana W. Sperb-Ludwig,Fernanda Borsatto,Taciane Doriqui,Maria Juliana R. Leão,Emília K.E.A Boa-Sorte,Ney Lourenço,Charles M. Kim,Chong A. Souza,Carolina F. M. de Rocha,Helio Ribeiro,Marcia Steiner,Carlos E. Moreno,Carolina A. Bernardi,Pricila Valadares,Eugenia Artigalas,Osvaldo Carvalho,Gerson Wanderley,Hector Y. C. D’Almeida,Vânia Santana-da-Silva,Luiz C. Blom,Henk J. Schwartz,Ida V. D. |
| author_role | author |
| country_str | BR |
| creators_json_txt | [{\"Person.name\":\"Poloni,Soraia\"},{\"Person.name\":\"Hoss,Giovana W.\"},{\"Person.name\":\"Sperb-Ludwig,Fernanda\"},{\"Person.name\":\"Borsatto,Taciane\"},{\"Person.name\":\"Doriqui,Maria Juliana R.\"},{\"Person.name\":\"Leão,Emília K.E.A\"},{\"Person.name\":\"Boa-Sorte,Ney\"},{\"Person.name\":\"Lourenço,Charles M.\"},{\"Person.name\":\"Kim,Chong A.\"},{\"Person.name\":\"Souza,Carolina F. M. de\"},{\"Person.name\":\"Rocha,Helio\"},{\"Person.name\":\"Ribeiro,Marcia\"},{\"Person.name\":\"Steiner,Carlos E.\"},{\"Person.name\":\"Moreno,Carolina A.\"},{\"Person.name\":\"Bernardi,Pricila\"},{\"Person.name\":\"Valadares,Eugenia\"},{\"Person.name\":\"Artigalas,Osvaldo\"},{\"Person.name\":\"Carvalho,Gerson\"},{\"Person.name\":\"Wanderley,Hector Y. C.\"},{\"Person.name\":\"D’Almeida,Vânia\"},{\"Person.name\":\"Santana-da-Silva,Luiz C.\"},{\"Person.name\":\"Blom,Henk J.\"},{\"Person.name\":\"Schwartz,Ida V. D.\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Poloni,Soraia Hoss,Giovana W. Sperb-Ludwig,Fernanda Borsatto,Taciane Doriqui,Maria Juliana R. Leão,Emília K.E.A Boa-Sorte,Ney Lourenço,Charles M. Kim,Chong A. Souza,Carolina F. M. de Rocha,Helio Ribeiro,Marcia Steiner,Carlos E. Moreno,Carolina A. Bernardi,Pricila Valadares,Eugenia Artigalas,Osvaldo Carvalho,Gerson Wanderley,Hector Y. C. D’Almeida,Vânia Santana-da-Silva,Luiz C. Blom,Henk J. Schwartz,Ida V. D. |
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| datacite.subjects.subject.fl_str_mv | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| datacite.titles.title.fl_str_mv | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| dc.creator.none.fl_str_mv | Poloni,Soraia Hoss,Giovana W. Sperb-Ludwig,Fernanda Borsatto,Taciane Doriqui,Maria Juliana R. Leão,Emília K.E.A Boa-Sorte,Ney Lourenço,Charles M. Kim,Chong A. Souza,Carolina F. M. de Rocha,Helio Ribeiro,Marcia Steiner,Carlos E. Moreno,Carolina A. Bernardi,Pricila Valadares,Eugenia Artigalas,Osvaldo Carvalho,Gerson Wanderley,Hector Y. C. D’Almeida,Vânia Santana-da-Silva,Luiz C. Blom,Henk J. Schwartz,Ida V. D. |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Journal of Inborn Errors of Metabolism and Screening v.6 2018 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
| dc.subject.none.fl_str_mv | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| dc.title.fl_str_mv | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | article |
| id | oasisbr_35948c3adbbd804c28126c92d4f77b13 |
| identifier.url.fl_str_mv | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312 |
| inst_facet_str | urn:organizationAcronym:oasisbr{{{_:::_}}}IBICT |
| instacron_str | OASISBR |
| institution | IBICT |
| instname_str | IBICT |
| language | eng |
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| network_name_str | Oasisbr |
| oai_identifier_str | oai:scielo:S2326-45942018000100312 |
| organization_str_mv | urn:organizationAcronym:oasisbr |
| person_str_mv | Poloni,Soraia Hoss,Giovana W. Sperb-Ludwig,Fernanda Borsatto,Taciane Doriqui,Maria Juliana R. Leão,Emília K.E.A Boa-Sorte,Ney Lourenço,Charles M. Kim,Chong A. Souza,Carolina F. M. de Rocha,Helio Ribeiro,Marcia Steiner,Carlos E. Moreno,Carolina A. Bernardi,Pricila Valadares,Eugenia Artigalas,Osvaldo Carvalho,Gerson Wanderley,Hector Y. C. D’Almeida,Vânia Santana-da-Silva,Luiz C. Blom,Henk J. Schwartz,Ida V. D. |
| publishDate | 2018 |
| publisher.none.fl_str_mv | Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
| repo_facet_str | urn:repositoryAcronym:oasisbr{{{_:::_}}}Oasisbr |
| reponame_str | Oasisbr |
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| spelling | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed PatientsPoloni,SoraiaHoss,Giovana W.Sperb-Ludwig,FernandaBorsatto,TacianeDoriqui,Maria Juliana R.Leão,Emília K.E.ABoa-Sorte,NeyLourenço,Charles M.Kim,Chong A.Souza,Carolina F. M. deRocha,HelioRibeiro,MarciaSteiner,Carlos E.Moreno,Carolina A.Bernardi,PricilaValadares,EugeniaArtigalas,OsvaldoCarvalho,GersonWanderley,Hector Y. C.D’Almeida,VâniaSantana-da-Silva,Luiz C.Blom,Henk J.Schwartz,Ida V. D.classical homocystinuriaCBS deficiencyhomocysteinepyridoxine responsivenessdiagnosisopen accesshttp://purl.org/coar/access_right/c_abf2http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312URLhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312URLHasVersion2018-01-01Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.engtext/htmlLatin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)Journal of Inborn Errors of Metabolism and Screening v.6 2018reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPTjournal articlehttp://purl.org/coar/resource_type/c_6501literatureVoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85 |
| spellingShingle | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients Poloni,Soraia classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| status | SINGLETON |
| status_str | VoR |
| subject.fl_str_mv | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| title | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| title_full | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| title_fullStr | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| title_full_unstemmed | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| title_short | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| title_sort | Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients |
| topic | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| topic_facet | classical homocystinuria CBS deficiency homocysteine pyridoxine responsiveness diagnosis |
| url | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312 |
| visible | 1 |
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