Neurofibromatosis: part 2 – clinical management
| Autor: | Eric Grossi Morato, Hérika Martins Mendes, Nilton Alves de Rezende, Juliana Ferreira de Souza, Aline Stangherlin Martins, Eny Maria Goloni Bertollo, Pollyanna Barros Batista, Lucas Eliam, Vanessa Waisberg, Luciana Baptista Pereira, Eugênia Ribeiro Valadares, Yehuda Waisberg, Ingrid Faria Gianordoli-Nascimento, Luíza de Oliveira Rodrigues, Nikolas Andre Mata-Machado, Jorge Bezerra Cavalcanti Sette, Mauro Geller, Érika Cristina Pavarino, Luiz Oswaldo Carneiro Rodrigues, Luciana Gonçalves Madeira, Paula Vieira Teixeira Vidigal, Débora Marques de Miranda, Marcio Leandro Ribeiro de Souza, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, Carla Menezes da Silva, José Renan Cunha-Melo, Danielle de Souza Costa |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Optic Nerve Glioma
schwannomatose Neurofibromatosis 2 medicine.medical_specialty Pediatrics Neurofibromatosis 1 Skin Neoplasms neurofibromatosis type 2 Genetic counseling neurofibromatosis type 1 lcsh:RC321-571 Risk Factors medicine Humans Neurofibromatosis type 2 Neurofibromatosis Schwannomatosis lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Neurofibromatoses Legius syndrome schwannomatosis neurofibromatosis business.industry Disease Management Guideline neurofibromatose 2 neurofibromatose 1 medicine.disease neurofibromatoses Surgery Neurology síndrome de Legius Neurology (clinical) Differential diagnosis business Neurilemmoma |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 73, Iss 6, Pp 531-543 (2015) Arquivos de Neuro-Psiquiatria, Volume: 73, Issue: 6, Pages: 531-543, Published: JUN 2015 |
| ISSN: | 1678-4227 |
| Popis: | Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1. A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1. |
| Databáze: | OpenAIRE |
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