Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná
Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rar...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pediatria
2022-12-01
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| Series: | Residência Pediátrica |
| Subjects: | |
| Online Access: | https://residenciapediatrica.com.br/detalhes/1269/perfil%20genetico-clinico%20dos%20pacientes%20atendidos%20no%20ambulatorio%20de%20doencas%20raras%20de%20um%20hospital%20pediatrico%20de%20curitiba-%20parana |
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| author | Déborah Rossane Santana Costa de-Souza Franciele Bona Verzeletti Mara Lúcia Schmitz Ferreira Santos Josiane Souza |
| author_facet | Déborah Rossane Santana Costa de-Souza Franciele Bona Verzeletti Mara Lúcia Schmitz Ferreira Santos Josiane Souza |
| author_sort | Déborah Rossane Santana Costa de-Souza |
| collection | DOAJ |
| description | Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rare diseases. This study aims to describe the genetic/clinical profile of patients seen at the Rare Diseases Outpatient Clinic of a referral pediatric hospital in southern Brazil.
Methodology: This retrospective descriptive quantitative study looked into data from paper and electronic medical charts of patients seen at the Rare Diseases Outpatient Clinic and genetic test results of included patients stored in the platform of the hospital’s Clinical Analysis Laboratory.
Results and Discussion: The study included 553 patient medical charts. Prevalence of male patients and aged between zero and 11 years was greater. The most commonly reported symptoms were dysmorphisms and congenital malformations (12.5%), developmental delay (11.0%) and seizures (10.5%). Only 24.7% of the molecular genetic tests presented altered results. Alterations were more notably seen in genes PHKA2, G6PC, FBP1, and CTNS. The number of altered test results was lower than expected. The greater availability and popularization of these tests can be noticed by the increase in the number of tests ordered. Increased awareness about molecular genetic testing is very positive and may help healthcare teams improve patient quality of life.
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| first_indexed | 2024-03-09T14:32:34Z |
| format | Article |
| id | doaj.art-57be059d248441ef879b3ae05a477070 |
| institution | Directory Open Access Journal |
| issn | 2236-6814 |
| language | English |
| last_indexed | 2024-03-09T14:32:34Z |
| publishDate | 2022-12-01 |
| publisher | Sociedade Brasileira de Pediatria |
| record_format | Article |
| series | Residência Pediátrica |
| spelling | doaj.art-57be059d248441ef879b3ae05a4770702023-11-27T17:47:25ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142022-12-0112410.25060/residpediatr-2022.v12n4-583Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, ParanáDéborah Rossane Santana Costa de-Souza0Franciele Bona Verzeletti1Mara Lúcia Schmitz Ferreira Santos2Josiane Souza3Faculdades Pequeno Príncipe, Residência Multiprofissional em Saúde da Criança e do Adolescente - Curitiba - Paraná - BrasilFaculdades Pequeno Príncipe, Coordenação do Curso de Biomedicina - Curitiba - Paraná - BrasilHospital Pequeno Príncipe, Ambulatório de Doenças Raras - Curitiba - Paraná - BrasilHospital Pequeno Príncipe, Ambulatório de Doenças Raras - Curitiba - Paraná - BrasilIntroduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rare diseases. This study aims to describe the genetic/clinical profile of patients seen at the Rare Diseases Outpatient Clinic of a referral pediatric hospital in southern Brazil. Methodology: This retrospective descriptive quantitative study looked into data from paper and electronic medical charts of patients seen at the Rare Diseases Outpatient Clinic and genetic test results of included patients stored in the platform of the hospital’s Clinical Analysis Laboratory. Results and Discussion: The study included 553 patient medical charts. Prevalence of male patients and aged between zero and 11 years was greater. The most commonly reported symptoms were dysmorphisms and congenital malformations (12.5%), developmental delay (11.0%) and seizures (10.5%). Only 24.7% of the molecular genetic tests presented altered results. Alterations were more notably seen in genes PHKA2, G6PC, FBP1, and CTNS. The number of altered test results was lower than expected. The greater availability and popularization of these tests can be noticed by the increase in the number of tests ordered. Increased awareness about molecular genetic testing is very positive and may help healthcare teams improve patient quality of life. https://residenciapediatrica.com.br/detalhes/1269/perfil%20genetico-clinico%20dos%20pacientes%20atendidos%20no%20ambulatorio%20de%20doencas%20raras%20de%20um%20hospital%20pediatrico%20de%20curitiba-%20paranarare diseasesgenetic profileclinical diagnosiswhole exome sequencing polymorphismsingle nucleotide karyotype |
| spellingShingle | Déborah Rossane Santana Costa de-Souza Franciele Bona Verzeletti Mara Lúcia Schmitz Ferreira Santos Josiane Souza Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná Residência Pediátrica rare diseases genetic profile clinical diagnosis whole exome sequencing polymorphism single nucleotide karyotype |
| title | Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná |
| title_full | Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná |
| title_fullStr | Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná |
| title_full_unstemmed | Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná |
| title_short | Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná |
| title_sort | perfil genetico clinico dos pacientes atendidos no ambulatorio de doencas raras de um hospital pediatrico de curitiba parana |
| topic | rare diseases genetic profile clinical diagnosis whole exome sequencing polymorphism single nucleotide karyotype |
| url | https://residenciapediatrica.com.br/detalhes/1269/perfil%20genetico-clinico%20dos%20pacientes%20atendidos%20no%20ambulatorio%20de%20doencas%20raras%20de%20um%20hospital%20pediatrico%20de%20curitiba-%20parana |
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