Von Hippel-Lindau病特点分析及外科处理

Clinical manifestations and surgical strategies for Von Hippel-Lindau disease

目的提高对VHL病的认识,改善VHL病的综合诊疗水平。方法 2010年至2012年收治的2个VHL家系,通过基因分析证实为家族性,共13例患者,1例携带者。通过回顾性分析该组患者的临床表现、实验室检查、影像学检查、基因检测以及手术和病理情况,总结VHL病的特点及外科处理手段。结果患者中有男性8例,女性5例,中位发病年龄为32岁,男性中位发病年龄为28岁,女性中位发病年龄为34岁。13例患者中,8例患者因神经系统原因就诊(61.5%),3例患者因视力下降就诊(23.1%),1例患者因体检发现肾占位就诊(7.7%),另有1例患者无特殊临床表现。目前7例患者(50%)已经死亡,其中男性5例,女性2例,中位死亡年龄为45岁,主要死亡原因为脑出血(5/7),其次为晚期肾癌(2/7)。主要治疗方法为手术切除肿瘤。对于晚期肾癌患者可以使用靶向药物治疗。基因筛查可以发现早期病例。结论 VHL病为遗传性疾病,常呈家族性、多器官发病,应提高对该病这两个特点的认识。对其家族成员应进行基因筛查,可以发现早期病例。诊断应全面,术前准备应充分,可一次性切除多处病灶,根据情况可选择腹腔镜手术,对于晚期肾癌患者可以使用靶向药物。

Objective To discuss the diagnosis and treatment of Von Hippel-Lindan disease for better comprehen- sion. Methods From 2010 to 2012, 2 families with VHL were treated in our hospital. By genetic testing, the 2 families were confirmed as having genetic mutation, in which there were 13 patients and 1 cartier. The clinical data from the 2 fam- ilies, including clinical manifestations, laboratory tests, imaging report, genetic testing, operative and pathological find- ings, were analyzed and summaries of the characteristics of VHL and surgical strategies were concluded. Results There were 8 male and 5 female patients, of which the median age was 32 years, with the males＇ being 28, and females＇ being 34. Of all the subjects, 8 cases （61.5%） had neurological signs, 3 cases （23.1%） demonstrated impaired vision, 1 case （7.7%） was of renal cancer, and 1 case had no syndrome. So far, 7 cases were dead, including 5 male and 2 fe- male, whose median age is 45 years old. The main cause of death was cerebral hemorrhage （5/7） , followed by renal cell carcinoma （2/7）. Operation was applied as the main treatment, and targeted therapy was applicable for advanced renal cell carcinoma. Early stage patients could be detected by gene screening. Condusion VHL diseases is a relatively rareautosomal dominant disorder, with various clinical manifestations, which must be further understood. Diagnosis and preop- erative preparation should be fully performed as many lesions can be cut off in one stage operation. Laparoscopic surgery can be considered according to patients＇ condition. And screening is important for the family members.