Khanduri Sachin, Khan Nazia, Malik Saif, Katara Shivangi, Fatima Mariyam
Radiodiagnosis, Era's Lucknow Medical College and Hospital, Lucknow, IND.
Cureus. 2021 Jan 26;13(1):e12925. doi: 10.7759/cureus.12925.
Von Hippel-Lindau (VHL) disease is an inherited syndrome manifested as a benign and malignant tumor. It is an autosomal dominant syndrome diagnosed approximately in 1 in 36,000 people. We report a case where male siblings presented with the involvement of bilateral kidneys and the multi-cystic lesion on the pancreas in both. Reverse transcription polymerase chain reaction (RT-PCR) was conducted to detect the VHL gene, which turned out to be a significant finding in our study. The rare involvement of both pancreas and kidneys was noted in the siblings with VHL in the present study. In patients with VHL-associated tumour presentations, the most frequent detection of pathogenic variants in the VHL gene is the result of directed genetic testing or inherited cancer gene panels. The presence of renal and pancreatic involvement is rare but a significant finding present within the family member who needs to be screened.
冯·希佩尔-林道（VHL）病是一种表现为良性和恶性肿瘤的遗传性综合征。它是一种常染色体显性综合征，大约每36000人中就有1人被诊断出。我们报告了一例病例，其中男性同胞均出现双侧肾脏受累以及胰腺多发囊性病变。进行了逆转录聚合酶链反应（RT-PCR）以检测VHL基因，这在我们的研究中是一个重要发现。在本研究中，VHL患者的同胞中胰腺和肾脏均罕见受累。在VHL相关肿瘤表现的患者中，VHL基因中最常检测到的致病变异是定向基因检测或遗传性癌症基因检测板的结果。肾脏和胰腺受累的情况很少见，但在需要筛查的家庭成员中是一个重要发现。
