Porterfield J K, Pyeritz R E, Traill T A
Am J Med Genet. 1986 Nov;25(3):531-5. doi: 10.1002/ajmg.1320250315.
Neurofibromatosis von Recklinghausen (NFvR) has been reported to be associated with diffuse interstitial pulmonary fibrosis. We describe a patient with NFvR presenting in middle age with dyspnea and cyanosis. Chest radiographs showed right ventricular enlargement, dilated proximal pulmonary arteries, and bilaterally increased interstitial markings. Cardiac catheterization showed moderately severe pulmonary hypertension and no evidence of congenital heart defect. The interstitial fibrosis associated with NFvR can result in symptomatic pulmonary hypertension.
据报道，冯雷克林霍增氏神经纤维瘤病（NFvR）与弥漫性间质性肺纤维化相关。我们描述了一名中年NFvR患者，其表现为呼吸困难和发绀。胸部X线片显示右心室增大、近端肺动脉扩张以及双侧肺间质纹理增多。心导管检查显示中度严重的肺动脉高压，且无先天性心脏缺陷的证据。与NFvR相关的间质性纤维化可导致有症状的肺动脉高压。
