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1型和2型神经纤维瘤病

Neurofibromatosis types 1 and 2.

作者信息

Yohay Kaleb

机构信息

Division of Child Neurology and Pediatrics, Johns Hopkins University, Baltimore, Maryland 21287, USA.

出版信息

Neurologist. 2006 Mar;12(2):86-93. doi: 10.1097/01.nrl.0000195830.22432.a5.

Abstract

BACKGROUND

Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant neurocutaneous disorders with some similarities and many differences. They are frequently discussed together and often confused for one another by clinicians. Both disorders have widely variable presentations and degrees of severity. A thorough understanding of these complex disorders is essential for proper medical management, anticipatory care, and patient education.

REVIEW SUMMARY

In this article, the clinical features, genetics, pathogenesis, and management of neurofibromatosis types 1 and 2 are reviewed and compared.

CONCLUSIONS

NF1 and NF2 are complex genetic disorders with numerous manifestations and wide phenotypic variability. The complex nature of these disorders requires coordinated multidisciplinary care.

摘要

背景

1型和2型神经纤维瘤病(NF1和NF2)是常染色体显性遗传的神经皮肤疾病,它们有一些相似之处,但也存在许多差异。临床医生经常将它们放在一起讨论,并且常常相互混淆。这两种疾病的表现和严重程度差异很大。全面了解这些复杂的疾病对于正确的医疗管理、预防性护理和患者教育至关重要。

综述总结

本文对1型和2型神经纤维瘤病的临床特征、遗传学、发病机制及管理进行了综述和比较。

结论

NF1和NF2是复杂的遗传性疾病,有多种表现且表型变异广泛。这些疾病的复杂性需要多学科协调护理。

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