Horovitz Dafne Dain Gandelman, Pessoa André, França Junior Marcondes Cavalcante, Giugliani Roberto, Souza Carolina Fischinger Moura de, Embiruçu Emília Katiane, Braga-Neto Pedro, Lourenço Charles Marques
Fundação 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.
Arq Neuropsiquiatr. 2025 Mar;83(3):1-8. doi: 10.1055/s-0045-1807714. Epub 2025 May 9.
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.
尼曼-匹克C型（NPC）病是一种罕见的遗传性疾病，其临床谱范围从产前出现且迅速致死的致命性疾病到成人发病的慢性神经退行性疾病。鉴于巴西关于NPC病的信息匮乏，一组专家决定在国家层面讨论一些与该疾病相关的方面。本手稿描述了一次巴西共识会议的结果，该会议从临床实践角度出发，旨在为巴西NPC病的诊断、管理和随访提出建议。这些建议包括临床表现的患者特征，如根据年龄组划分的全身和神经表现以及非典型表现；考虑巴西实际情况的诊断确认流程图；以及治疗，包括疾病改善疗法、支持性护理和患者随访。专家小组为巴西NPC病的诊断和管理提供了客观的建议依据。作者期望本手稿将有助于巴西的临床医生识别、充分治疗和随访NPC患者。
