Moodley Manikum, Lopez Karla Robles
Pediatric Neuroscience at Dell Children's Medical CenterThe University of Texas at Austin Dell Medical School, USA.
Pediatric Neuroscience at Dell Children's Medical CenterThe University of Texas at Austin Dell Medical School, USA.
Semin Pediatr Neurol. 2024 Dec;52:101172. doi: 10.1016/j.spen.2024.101172. Epub 2024 Nov 12.
Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies. It has complete penetrance but highly variable disease manifestations. Certain features including café-au-lait macules, bony abnormalities, and optic pathway gliomas emerge by early childhood, but others appear later in life. A cure for NF1 has not been found, however emerging treatments have involved modulation of the RAS/MAPK signaling pathway.
1型神经纤维瘤病（NF1）是最常见的遗传性疾病之一。它可以以常染色体显性方式遗传，但几乎一半的病例是新发的。NF1与咖啡斑、腹股沟和腋窝区域的雀斑、神经纤维瘤、虹膜的Lisch结节或脉络膜异常、视神经通路胶质瘤以及独特的骨骼异常有关。它具有完全的外显率，但疾病表现高度可变。某些特征，包括咖啡斑、骨骼异常和视神经通路胶质瘤在幼儿期就会出现，但其他特征则在生命后期出现。目前尚未找到治愈NF1的方法，然而新兴的治疗方法涉及对RAS/MAPK信号通路的调节。
