Caracterização epidemiológica e clínica dos pacientes com neurofibromatose tipo I em Sergipe

• Autor(a) principal: Santos, Debora Santana
• Data de Publicação: 2023
• Tipo de documento: Trabalho de conclusão de curso
• Idioma: por
• Título da fonte: Repositório Institucional da UFS
• Texto Completo: https://ri.ufs.br/jspui/handle/riufs/19938
• topic: Medicina; Fibromas; Epidemiologia; Saúde pública; Neurofibromatoses; Neurofibromatoses; Epidemiology; Medicine; Public Health

: Introduction: Neurofibromatosis type 1 (NFI) is a rare genetic syndrome, with an incidence of approximately 1 in every 3,000 live births, of which around 50% have no family history of the disease, and in these cases, the diagnosis of NFI is usually delayed . Such data are worrying, since the number of complications tends to increase over time, and thus the patient is more susceptible to developing tumors, such as: pheochromocytoma, sarcoma, melanoma, breast cancer, leukemia and gastrointestinal stromal tumors. Therefore, an extremely relevant issue is the age at which affected patients receive the diagnosis, as NFI is a disease that requires continuous monitoring to avoid and treat such complications early. Objective: To understand the clinical and epidemiological profiles of patients with neurofibromatosis type 1 in Sergipe. Method: Observational, descriptive and cross-sectional study, with data collected from patients with NF-I at the Medical Genetics outpatient clinic of the Federal University of Sergipe, Campus Lagarto, using a standardized questionnaire. Results: The sample consisted of 20 individuals with NF-I. There was a prevalence in females and mixed race. The most reported signs/symptoms were Café au Leite Spots (MCCL) in 100% of cases, axillary and inguinal ephelides in 75% (15/20), difficulty concentrating in 65% (13/20) and learning problems in 55 % (11/20). The age at which medical care was sought and diagnosed had an average of 13.8 and 16.2 years, respectively, demonstrating a delay in the diagnosis of NF-I. Conclusion: It was possible to notice a delay in the diagnosis of NF-I in the State and a greater predominance in mixed race and females. Furthermore, most of the main findings cited in the literature were noticed in the sample, with the exception of precocious puberty, autism spectrum disorder, optic pathway glioma, neoplasms, osteopenia and bone dysplasias.