Fox Charles J, Tomajian Samir, Kaye Aaron J, Russo Stephanie, Abadie Jacqueline Volpi, Kaye Alan D
Ochsner J. 2012 Summer;12(2):111-21.
Neurofibromatosis type 1 (neurofibromatosis-1), a relatively common single-gene disorder, is caused by a mutation of the NF1 gene that results in a loss of activity or in a nonfunctional neurofibromin protein. Clinical anesthesiologists may find patients with neurofibromatosis-1 challenging because this condition may affect most organ systems and result in a wide variety of presentations and clinical implications. Current neurofibromatosis-1 research studies include genotype-phenotype correlations, investigation of the pathoetiology behind the different clinical manifestations of neurofibromatosis-1, and the search for treatment options for the different features of the disorder. Neurofibromatosis-1-associated complications of the central nervous, respiratory, cardiovascular, musculoskeletal, and gastrointestinal and genitourinary systems all present various degrees of considerations for anesthesiologists. Additionally, neurofibromatosis-1 has dramatic implications for pregnant women.
1型神经纤维瘤病（神经纤维瘤病1型）是一种相对常见的单基因疾病，由NF1基因突变引起，该突变导致活性丧失或产生无功能的神经纤维瘤蛋白。临床麻醉医生可能会发现1型神经纤维瘤病患者具有挑战性，因为这种疾病可能影响大多数器官系统，并导致各种各样的表现和临床影响。目前关于1型神经纤维瘤病的研究包括基因型与表型的相关性、对1型神经纤维瘤病不同临床表现背后的病理病因的研究，以及寻找针对该疾病不同特征的治疗方案。1型神经纤维瘤病相关的中枢神经、呼吸、心血管、肌肉骨骼、胃肠道和泌尿生殖系统并发症，都给麻醉医生带来了不同程度的考虑因素。此外，1型神经纤维瘤病对孕妇有重大影响。
