Chatha R K, Johnson A M, Rothberg P G, Townsend R R, Neumann H P, Gabow P A
Departments of Medicine and Radiology, University of Colorado Health Sciences Center, and Denver Health, Denver, CO 80262, USA.
Am J Kidney Dis. 2001 Apr;37(4):852-8. doi: 10.1016/s0272-6386(01)80136-0.
The diagnostic confusion in differentiating the various causes of renal cystic diseases in adults is well documented. This confusion can include misclassifications between autosomal dominant polycystic kidney disease (ADPKD) and von Hippel-Lindau disease (VHL). We describe such a case of VHL. A review of the literature and of the patients in our database regarding typical features of each disease, mean age of onset, and frequency of these features was undertaken to provide helpful differentiating features. Pancreatic cysts are one differentiating feature. In VHL, pancreatic cysts can occur in 70% of patients, often are multiple, and rarely may cause exocrine or endocrine insufficiency. Pancreatic islet cell tumors occur. In ADPKD, pancreatic cysts are found in only 9% of patients, usually are single and asymptomatic, generally occur in conjunction with cystic liver disease, and are not found in children or unaffected family members. Pancreatic malignancies do not occur with increased frequency in ADPKD. A different pattern, especially in patients without a strong family history of ADPKD, may be a clue to VHL masquerading as ADPKD. Genetic mutation screening of the VHL gene should be used in these patients.
成人肾囊性疾病各种病因鉴别诊断中的混淆情况已有充分记录。这种混淆可能包括常染色体显性多囊肾病（ADPKD）和冯·希佩尔－林道病（VHL）之间的错误分类。我们描述了这样一例VHL病例。为了提供有助于鉴别的特征，我们对文献以及我们数据库中的患者进行了回顾，内容涉及每种疾病的典型特征、平均发病年龄以及这些特征的出现频率。胰腺囊肿是一个鉴别特征。在VHL中，70%的患者会出现胰腺囊肿，通常为多发，很少会导致外分泌或内分泌功能不全。会出现胰岛细胞瘤。在ADPKD中，仅9%的患者有胰腺囊肿，通常为单发且无症状，一般与肝囊肿病同时出现，在儿童或未患病的家庭成员中未发现。ADPKD患者中胰腺恶性肿瘤的发生频率不会增加。一种不同的模式，尤其是在没有ADPKD家族病史的患者中，可能是VHL伪装成ADPKD的线索。这些患者应进行VHL基因的基因突变筛查。
