CLINICAL-FEATURES AND NATURAL-HISTORY OF VONHIPPEL-LINDAU DISEASE
CLINICAL-FEATURES AND NATURAL-HISTORY OF VONHIPPEL-LINDAU DISEASE
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DOI：
10.1093/qjmed/77.2.1151
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发表时间：
1990-11-01
影响因子：
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通讯作者：
FERGUSONSMITH, MA
中科院分区：
文献类型：
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作者：
MAHER, ER;YATES, JRW;FERGUSONSMITH, MA
本文对152例von Hippel-Lindau病患者的临床特点、发病年龄及生存情况进行了分析。平均发病年龄为26.3岁，97%的患者在60岁之前出现。首发表现为视网膜血管瘤65例(43%)，其次为小脑血管母细胞瘤60例(39%)，肾细胞癌15例(10%)。总体而言，89名患者(59%)发生了小脑血管母细胞瘤，89例(59%)发生了视网膜血管瘤，43例(28%)发生了肾癌，20例(13%)发生了脊髓血管母细胞瘤，11例(7%)发生了嗜铬细胞瘤。肾脏、胰腺和附睾囊肿是常见的表现，但其确切发生率并未得到准确评估。诊断为肾癌的平均年龄(44.0.+-.10.9岁)显著高于小脑血管母细胞瘤(29.0±-)岁。10.0岁)和视网膜血管瘤(25.4±-)。12.7年)。Von Hippel-Lindan病患者在60岁前发展为小脑血管母细胞瘤、视网膜血管瘤或肾细胞癌的概率分别为0.84、0.7和0.69。基于对每个主要并发症的发病年龄数据的详细分析，提出了一种针对受影响患者和高危亲属的全面筛查方案。中位无瘤生存期为49年，其中肾癌是主要死亡原因。
The clinical features, age at onset and survival of 152 patients with von Hippel-Lindau disease were studied. Mean age at onset was 26.3 years and 97 percent of patients had presented by aged 60 years. Retinal angioma was the first manifestation in 65 patients (43 percent), followed by cerebellar haemangioblastoma n = 60, 39 percent) and renal cell carcinoma (n = 15, 10 percent). Overall, 89 patients (59 percent) developed a cerebellar haemangioblastoma, 89 (59 percent) a retinal angioma, 43 (28 percent) renal cell carcinoma, 20 (13 percent) spinal haemangioblastoma and 11 (7 percent) a phaeochromocytoma. Renal, pancreatic and epididymal cysts were frequent findings but their exact incidence was not accurately assessed. Mean age at diagnosis of renal cell carcinoma (44.0 .+-. 10.9 years) was significantly older than that for cerebellar haemangioblastoma (29.0 .+-. 10.0 years) and retinal angioma (25.4 .+-. 12.7 years). The probability of a patient with von Hippel-Lindan disease developing a cerebellar haemangioblastoma, retinal angioma or renal cell carcinoma by age 60 years was 0.84, 0.7 and 0.69, respectively. A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications. Median acturial survival was 49 years, with renal cell carcinoma the leading cause of death.