{"title":"VHL Syndrome with Diabetes Mellitus, and Pulmonary and Thyroid Nodules: A Case Report.","authors":"Zhiyuan Peng, Chuan Hua, Wenze Liu, Mingrui Zhou, Xiulan Yu, Yong Zhao, Xinhe Zuo","doi":"10.15586/jkc.v12i3.412","DOIUrl":null,"url":null,"abstract":"<p><p>Von Hippel-Lindau (VHL) syndrome is an autosomal dominant hereditary tumor syndrome caused by mutations in the <i>VHL</i> gene. It is characterized by the occurrence of tumors in multiple organs. Pancreatic involvement in VHL syndrome can present as pancreatic cysts or neuroendocrine tumors, which may interfere with both pancreatic exocrine and endocrine pancreatic functions. To our knowledge, no patients with VHL syndrome complicated by diabetes mellitus, pulmonary nodules, and thyroid nodules are reported in the literature. This study aims to explore the pathogenesis of diabetes, pulmonary nodules, and thyroid nodules in VHL syndrome through the analysis of a patient with VHL syndrome and to review relevant literature.</p>","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"12 3","pages":"37-46"},"PeriodicalIF":1.9000,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12451314/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Kidney Cancer and VHL","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15586/jkc.v12i3.412","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Von Hippel-Lindau (VHL) syndrome is an autosomal dominant hereditary tumor syndrome caused by mutations in the VHL gene. It is characterized by the occurrence of tumors in multiple organs. Pancreatic involvement in VHL syndrome can present as pancreatic cysts or neuroendocrine tumors, which may interfere with both pancreatic exocrine and endocrine pancreatic functions. To our knowledge, no patients with VHL syndrome complicated by diabetes mellitus, pulmonary nodules, and thyroid nodules are reported in the literature. This study aims to explore the pathogenesis of diabetes, pulmonary nodules, and thyroid nodules in VHL syndrome through the analysis of a patient with VHL syndrome and to review relevant literature.
Von Hippel-Lindau (VHL)综合征是由VHL基因突变引起的常染色体显性遗传性肿瘤综合征。它的特点是发生在多个器官的肿瘤。VHL综合征累及胰腺可表现为胰腺囊肿或神经内分泌肿瘤,可同时干扰胰腺外分泌和内分泌功能。据我们所知,文献中尚未报道VHL综合征合并糖尿病、肺结节和甲状腺结节的患者。本研究旨在通过对1例VHL综合征患者的分析,探讨糖尿病、肺结节、甲状腺结节在VHL综合征中的发病机制,并对相关文献进行复习。