结合临床特征探讨腹部超声在诊断Von-Hippel-Lindau综合征中的作用

Clinical Features of Von-Hippel-Lindau Syndrome and Its Ultrasonographic Diagnosis of Abdominal Mass

目的分析Von-Hippel-Lindau(VHL)综合征的临床特征,探讨腹部超声在诊断VHL综合征中的作用。方法回顾性分析1994年1月至2017年12月在北京协和医院收治的35例VHL综合征患者的临床资料,包括首诊年龄、症状、体征、受累脏器、手术次数、检查方法等,分析腹部超声对诊断VHL综合征的作用。结果35例患者中,嗜铬细胞瘤(14例)及神经系统血管母细胞瘤(13例)为常见的首发肿瘤,神经系统血管母细胞瘤(21例)、嗜铬细胞瘤(19例)、肾癌(17例)及胰腺占位(15例)为常见的肿瘤。主要手术原因为神经系统血管母细胞瘤(22例次)、嗜铬细胞瘤(23例次)及肾癌(13例次)。33例患者腹部脏器受累,20例(60.6%)首次被腹部超声发现,其中6例为健康体检时发现。行肾上腺超声33次,27次诊断准确。行胰腺超声16次,13次诊断准确。行肾脏超声19次,8次诊断准确。结论当超声发现肾脏、肾上腺、胰腺等部位的多发肿瘤时,超声医师要仔细询问家族史和神经系统疾病史,考虑VHL综合征的可能性。当临床提示存在VHL综合征时,超声能够发现及诊断腹部肿瘤,同时可以用于长期随访观察肿瘤的变化。超声是VHL综合征腹部疾病筛查和随诊的重要手段。

Objective To analyze the clinical features of Von-Hippel-Lindau(VHL)syndrome and explore the diagnostic value of abdominal ultrasound for this disease. Methods The clinical features including age at first diagnosis,symptoms,signs,affected organs,number of operations,and diagnostic examinations of 35 patients with VHL syndrome admitted to our center from January 1994 to December 2017 were retrospectively analyzed.The diagnostic value of abdominal ultrasound for VHL syndrome was analyzed. Results Pheochromocytoma( n=14)and nervous system hemangioblastoma( n=13)were the common firstly-identified tumors. Nervous system hemangioblastoma( n=21),pheochromocytoma( n=19),renal carcinoma( n=17), and pancreatic mass( n=15)were common tumors.The main surgical reasons were nervous system hemangioblastoma( n=22),pheochromocytoma( n=23)and renal carcinoma( n=13).Abdominal organ involvements were found in 33 patients,which were first detected by abdominal ultrasound in 20 patients and were found accidently during routine health checkups in 6 patients.The ultrasound results were accurate in 27 of 33 adrenal gland scans,13 of 16 pancreas scans,and 8 of 19 kidney scans. Conclusions When multiple tumors are detected in the kidney,adrenal gland,and pancreas by ultrasound,the possibility of VHL syndrome should be considered.When the clinical findings suggest the possibility of VHL syndrome,ultrasound can discover and diagnose the abdominal tumors and can also be used for the long-term follow-up of the tumors.Therefore,ultrasound is an important method in the screening and follow-up of patients with VHL syndrome.