Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Saleh Mustafa, Dib AlFadel, Beaini Sarah, Saad Charbel, Faraj Sary, El Joueid Youssef, Kotob Yasmine, Saoudi Lara, Emmanuel Nancy
Аннотация
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifestations, including cardiac, musculoskeletal, and neuronal issues, which have been well-studied in previous research and have prompted the development of current and emerging treatments. These treatments, mainly medications targeting specific manifestations of NF1, aim to mitigate the negative impacts of the disease on patients' lives. NF1 is associated with an increased risk of malignancy and a significant decrease in life expectancy. In this paper, we review the current and emerging treatments for NF1 in relation to its system-based manifestations.
METHODS: We conducted an extensive literature search using specific keywords through databases such as PubMed, Scopus, and Cochrane. The articles we found were compiled and subjected to strict inclusion and exclusion criteria.
RESULTS: Pharmacological advances have led to the development of products that hold promise as future treatments for NF1. Given the diverse manifestations that can affect multiple organ systems in patients with NF1, it is important to consider a variety of treatment options to achieve optimal results. However, one of the major challenges in diagnosing and treating NF1 is that patients present asymptomatically, making it necessary to rely on clinical features for diagnosis.
CONCLUSION: In conclusion, NF1 is a complex disease with varying manifestations and a growing field of pharmacologic treatments. The information presented in this article synthesizes current knowledge and available therapies for NF1.
METHODS: We conducted an extensive literature search using specific keywords through databases such as PubMed, Scopus, and Cochrane. The articles we found were compiled and subjected to strict inclusion and exclusion criteria.
RESULTS: Pharmacological advances have led to the development of products that hold promise as future treatments for NF1. Given the diverse manifestations that can affect multiple organ systems in patients with NF1, it is important to consider a variety of treatment options to achieve optimal results. However, one of the major challenges in diagnosing and treating NF1 is that patients present asymptomatically, making it necessary to rely on clinical features for diagnosis.
CONCLUSION: In conclusion, NF1 is a complex disease with varying manifestations and a growing field of pharmacologic treatments. The information presented in this article synthesizes current knowledge and available therapies for NF1.