1型神经纤维瘤病(neurofibromatosis type 1, NF1) 是最常见的类型,以前称为von Recklinghausen病。NF1的标志性特征是多发的牛奶咖啡斑和相关的皮肤神经纤维瘤。若临床特征局限于身体某一区域,由致病NF1基因变异的体细胞镶嵌所致,则称为节段型NF1。 本文将着重NF1的具体治疗和预后,NF1的发病机制、临床特征和诊断...
根据临床表现和遗传基础,神经纤维瘤病有3种不同类型:1型神经纤维瘤病(neurofibromatosis type 1, NF1)、2型神经纤维瘤病(neurofibromatosis type 2, NF2)和施万细胞瘤病。NF1曾称为von Recklinghausen病,是最常见的类型,其标志性特征是多发咖啡牛奶斑和神经纤维瘤。若临床特征局限于身体某一区域,由NF1基因致病变异...
S.; Wang, Z.; Lai, J.; Goutham Kota, V.; Hasan Abdulla Hasan Abdulla, M.; Lu, H. Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management. Cancers 2023, 15, 1077.
Although NF1 is a rare disease, it is an important cause of renovasculer hypertension in childhood. Abdominal bruit is an alerting physical finding in diagnosis of renal artery stenosis. We here presented our two cases diagnosed with hypertension while being screened for NF1 to emphasize the ...
Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)是由NF1基因突变引起的常染色体显性遗传性肿瘤性疾病,其患病率估测为1/4000～1/2000不等[1]。患者多幼年起病,临床表现多样,以咖啡牛奶斑(café au lait macules,CALMs)和多发性神经纤维瘤为特...
Cardiovascular disease in neurofibromatosis 1: report of the NF1 cardio- vascular task force. Genet Med 2002;4:150-11.Friedman JM, Arbiser J, Epstein JA et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002; 4: 105-111...
Neurofibromatosis type 1 (NF1)-Von Recklinghausen disease is the most frequent single-gene disorder that affects the nervous system. NF1 is inherited in an autosomal dominant manner with an estimated incidence of about 1 in 3000. The NF1 gene is mapped to chromosome 17, (17p21). Its ...
Disease–NeurofibromatosisTypeINF1GeneProtein-NeurofibrominProteinFunction–RasGAPBiologicalRole–ActiveinRasPathwayNF1geneandNeurofibrominRoleinCancer NeurofibromatosisTypeI Amongmostcommonneurogeneticdisorders-Itisheritable;allaffectedmembersoffamilyhavesameformofNFAffects1in3,500 -WhereasNF2affectsonly1in40,000 Di...
Type 1 diabetes is an autoimmune disease characterised by selective destruction of pancreatic beta cells by the immune system. The transcription factor nuclear factor-kappa B (NF-κB) regulates innate and adaptive immune responses. Using gene targeting andin vitroanalysis of pancreatic islets and immun...
Most of the clinical symptoms of the disease are age dependent and considerable phenotypic variability has been described both between and within families.3,4 This genetic disorder is caused by mutations in the NF1 gene, one of the largest human genes, composed of 60 exons and spanning more ...