Iwamuro Masaya, Kawamoto Hirofumi, Shiraha Hidenori, Nose Soichiro, Yamamoto Kazuhide
Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Okayama, Japan.
Hepatogastroenterology. 2012 Mar-Apr;59(114):589-91. doi: 10.5754/hge10236.
BACKGROUND/AIMS: Von Hippel-Lindau disease is an autosomal dominant genetic disorder characterized by neoplasms developing in multiple organs. Although the pancreas is one of the most frequently involved organs, the frequency of pancreatic cysts, cystadenomas, neuroendocrine tumors and diabetes has not been sufficiently evaluated due to the low prevalence of this disease. In this paper, we review and retrospectively analyze 11 patients with von Hippel-Lindau disease.
Eleven patients (6 males, 5 females) who underwent CT or MRI scans at Okayama University Hospital between 2002 and 2009 were enrolled in this study. Their pancreatic CT scans, MRI scans, biochemical test results and clinical histories were retrospectively reviewed.
All patients had one or more pancreatic involvements. Nine of the 11 patients had multiple pancreatic cysts, 2 had dilatation of the main pancreatic duct, 3 had a non-functioning pancreatic endocrine tumor (one patient required pancreatoduodenectomy due to the endocrine carcinoma) and 3 had diabetes mellitus. Pancreatic cystadenomas were not detected in this case series.
The prevalence of pancreatic involvement was 100% in this study. Regular screening and scheduled follow-up for pancreatic lesions and diabetes should be performed on individuals predisposed to von Hippel-Lindau disease.
背景/目的：冯·希佩尔-林道病是一种常染色体显性遗传病，其特征为多个器官发生肿瘤。尽管胰腺是最常受累的器官之一，但由于该病发病率低，胰腺囊肿、囊腺瘤、神经内分泌肿瘤及糖尿病的发病频率尚未得到充分评估。本文回顾并对11例冯·希佩尔-林道病患者进行了回顾性分析。
本研究纳入了2002年至2009年间在冈山大学医院接受CT或MRI扫描的11例患者（6例男性，5例女性）。对他们的胰腺CT扫描、MRI扫描、生化检测结果及临床病史进行了回顾性分析。
所有患者均有一处或多处胰腺受累。11例患者中有9例有多个胰腺囊肿，2例主胰管扩张，3例有无功能性胰腺内分泌肿瘤（1例因内分泌癌行胰十二指肠切除术），3例有糖尿病。本病例系列中未检测到胰腺囊腺瘤。
本研究中胰腺受累的患病率为100%。对于易患冯·希佩尔-林道病的个体，应定期筛查并对胰腺病变和糖尿病进行定期随访。
