Simon I, Rorive S, Kirkpatrick C, Roumeguere T, Nortier J L
Department of Nephrology, Erasme Hospital, Universite Libre de Bruxelles, Brussels, Belgium.
Clin Nephrol. 2008 Mar;69(3):224-8. doi: 10.5414/cnp69224.
Von Hippel-Lindau (VHL) disease is a dominant autosomal disorder inducing the development of many tumors, such as hemangioblastomas in the central nervous system and retina, cysts or tumors (benign or malignant) in the kidneys and/or the pancreas. We report the case of a pregnant woman who presented with a voluminous hemorrhagic cyst of the right kidney with an exophytic lesion detected in the lower median part of the cyst wall. As an anamnestic inquiry resulted in a familial history of VHL disease, a screening imaging was performed and detected three medullary hemangioblastomas. Considering the active bleeding of the renal cyst and its potential malignancy, a unilateral nephrectomy was carried out after pregnancy interruption. Histological analysis confirmed a multilocular clear cell renal carcinoma. This case underlines the importance of screening procedures such as abdominal ultrasonography and medullary magnetic resonance imaging in all pregnant women with a familial history of VHL disease.
冯·希佩尔-林道（VHL）病是一种常染色体显性遗传病，可引发多种肿瘤，如中枢神经系统和视网膜的血管母细胞瘤、肾脏和/或胰腺的囊肿或肿瘤（良性或恶性）。我们报告了一例孕妇病例，该孕妇右肾有一个巨大的出血性囊肿，在囊肿壁的下中部检测到一个外生性病变。由于既往史询问发现有VHL病家族史，遂进行了筛查影像学检查，发现了三个髓质血管母细胞瘤。考虑到肾囊肿有活动性出血及其潜在的恶性可能，在终止妊娠后进行了单侧肾切除术。组织学分析证实为多房性透明细胞肾细胞癌。该病例强调了在所有有VHL病家族史的孕妇中进行腹部超声和髓质磁共振成像等筛查程序的重要性。
