Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective
Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts d...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2025-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1807714 |
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| author | Dafne Dain Gandelman Horovitz André Pessoa Marcondes Cavalcante França Junior Roberto Giugliani Carolina Fischinger Moura de Souza Emília Katiane Embiruçu Pedro Braga-Neto Charles Marques Lourenço |
| author_facet | Dafne Dain Gandelman Horovitz André Pessoa Marcondes Cavalcante França Junior Roberto Giugliani Carolina Fischinger Moura de Souza Emília Katiane Embiruçu Pedro Braga-Neto Charles Marques Lourenço |
| author_sort | Dafne Dain Gandelman Horovitz |
| collection | DOAJ |
| description | Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts decided to discuss some disease-related aspects at the national level. The present manuscript describes the results of a Brazilian consensus meeting conducted to propose recommendations for the diagnosis, management, and follow-up of NPC disease in Brazil, considering the clinical practice point of view. These recommendations include patient characteristics on clinical presentation, as systemic and neurological manifestations according to the age group and atypical manifestations; a flowchart for diagnostic confirmation, considering the Brazilian scenario; and treatment, encompassing disease-modifying therapy, supportive care, and patients' follow-up. The expert panel provided an objective basis of recommendations on NPC diagnosis and management in Brazil. The authors expect that this manuscript will help clinicians to identify, adequately treat and follow-up NPC patients in Brazil. |
| format | Article |
| id | doaj-art-b5f09c0c49d14a178f9f358d37775de7 |
| institution | DOAJ |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-b5f09c0c49d14a178f9f358d37775de72025-08-20T03:05:10ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272025-03-01830300100810.1055/s-0045-1807714Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspectiveDafne Dain Gandelman Horovitz0https://orcid.org/0000-0001-7726-4301André Pessoa1https://orcid.org/0000-0003-0043-5373Marcondes Cavalcante França Junior2https://orcid.org/0000-0003-0898-2419Roberto Giugliani3https://orcid.org/0000-0001-9655-3686Carolina Fischinger Moura de Souza4https://orcid.org/0000-0002-7280-6260Emília Katiane Embiruçu5https://orcid.org/0000-0001-5387-6418Pedro Braga-Neto6https://orcid.org/0000-0001-9186-9243Charles Marques Lourenço7https://orcid.org/0000-0002-2296-6098Fundação Oswaldo Cruz, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Departamento de Genética Médica, Rio de Janeiro RJ, Brazil.Hospital Infantil Albert Sabin, Serviço de Neurologia e Neurogenética, Fortaleza CE, Brazil.Universidade Estadual de de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.Universidade Federal do Rio Grande do Sul, Departamento de Genética Médica, Porto Alegre RS, Brazil.Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brazil.Universidade do Estado da Bahia, Departamento de Ciências da Vida, Salvador BA, Brazil.Universidade Federal do Ceará, Faculdade de Medicina, Fortaleza CE, Brazil.Faculdade de Medicina de São José do Rio Preto, Centro de Referência de Doenças Raras, Unidade de Neurogenética, Clínica de Erros Inatos do Metabolismo, São José do Rio Preto SP, Brazil.Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts decided to discuss some disease-related aspects at the national level. The present manuscript describes the results of a Brazilian consensus meeting conducted to propose recommendations for the diagnosis, management, and follow-up of NPC disease in Brazil, considering the clinical practice point of view. These recommendations include patient characteristics on clinical presentation, as systemic and neurological manifestations according to the age group and atypical manifestations; a flowchart for diagnostic confirmation, considering the Brazilian scenario; and treatment, encompassing disease-modifying therapy, supportive care, and patients' follow-up. The expert panel provided an objective basis of recommendations on NPC diagnosis and management in Brazil. The authors expect that this manuscript will help clinicians to identify, adequately treat and follow-up NPC patients in Brazil.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1807714Practice GuidelineNiemann-Pick Disease, Type CBrazilLysosomal Storage Diseases |
| spellingShingle | Dafne Dain Gandelman Horovitz André Pessoa Marcondes Cavalcante França Junior Roberto Giugliani Carolina Fischinger Moura de Souza Emília Katiane Embiruçu Pedro Braga-Neto Charles Marques Lourenço Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective Arquivos de Neuro-Psiquiatria Practice Guideline Niemann-Pick Disease, Type C Brazil Lysosomal Storage Diseases |
| title | Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective |
| title_full | Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective |
| title_fullStr | Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective |
| title_full_unstemmed | Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective |
| title_short | Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective |
| title_sort | practical recommendations for diagnosis management and follow up of niemann pick type c disease patients a brazilian perspective |
| topic | Practice Guideline Niemann-Pick Disease, Type C Brazil Lysosomal Storage Diseases |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1807714 |
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