Scalzone Maria, Coccia Paola, Ruggiero Antonio, Riccardi Riccardo
Division of Pediatric Oncology, Catholic University of Rome, Rome, Italy.
Pediatr Med Chir. 2009 Nov-Dec;31(6):246-51.
Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is one of the most common genetic disorder. It is characterized by a wide variability and unpredictability of clinical manifestations involving multiple organ systems. Several complications affecting life expectancy can occur in affected patients. We reviewed genetic mechanisms, clinical aspects of the syndrome and multidisciplinary management required for NF1 patients.
1型神经纤维瘤病(NF1)或冯·雷克林豪森病是最常见的遗传性疾病之一。其特征是涉及多个器官系统的临床表现具有广泛的变异性和不可预测性。受影响的患者可能会出现几种影响预期寿命的并发症。我们回顾了NF1患者的遗传机制、该综合征的临床方面以及所需的多学科管理。