Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease.

IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM International Journal of Endocrinology and Metabolism Pub Date : 2021-03-16 eCollection Date: 2021-04-01 DOI:10.5812/ijem.105189
Ali Asghar Mir Saeid Ghazi, Atieh Amouzegar, Azita Zadeh-Vakili, Abdolreza Sheikh Rezaei, Alireza Amirbaigloo, Marjan Zarif Yeganeh, Hasan Hashemi, Fereidoun Azizi
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引用次数: 1

Abstract

Background: Von Hippel Lindau (VHL) disease is a hereditary disorder characterized by the development of benign or malignant tumors in the brain, spinal cord, eyes, adrenal medulla, kidney, pancreas, and many other organs. Advances in molecular diagnosis have led to the identification of the affected members of families at earlier stages. We present the clinical, laboratory, and genetic characteristics of five generations of a large Iranian kindred with VHL.

Methods: The proband, a 52-year-old Iranian man, was recognized with VHL. All family members underwent clinical, laboratory, imaging, and genetic evaluation. Medical files and histopathology reports of patients who had been operated on before were also reviewed. Diagnosis of the disease was based on clinical findings, positive family history of VHL, and development of a central nervous system or retinal hemangioblastoma or pheochromocytoma.

Results: Based on diagnostic criteria, our initial evaluations revealed that 10 members of the family had already been affected by the disease. Among them, nine had pheochromocytoma, and one had retinal hemangioblastoma. There was no case of kidney tumors among the kindred.

Conclusions: Study results show the high penetrance of the disease and focus on the large burden imposed by the disease on the health and quality of life of patients afflicted with the disease, emphasizing the importance of surveillance from early childhood for detection and management of the disease as early as possible.

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一个伊朗大亲属患Von Hippel Lindau病的临床和实验室特征
背景:Von Hippel - Lindau (VHL)病是一种遗传性疾病,其特征是在脑、脊髓、眼睛、肾上腺髓质、肾脏、胰腺和许多其他器官中发生良性或恶性肿瘤。分子诊断的进步使我们能够在早期阶段识别出受影响的家庭成员。我们提出临床,实验室和遗传特征的五代大伊朗亲属与VHL。方法:先证者为52岁伊朗男性,确诊为VHL。所有家庭成员都接受了临床、实验室、影像学和遗传评估。对既往手术患者的医疗档案和组织病理学报告也进行了回顾。该疾病的诊断基于临床表现、VHL阳性家族史、中枢神经系统或视网膜血管母细胞瘤或嗜铬细胞瘤的发展。结果:根据诊断标准,我们的初步评估显示,该家庭已有10名成员受到该病的影响。其中嗜铬细胞瘤9例,视网膜血管母细胞瘤1例。本组亲属无肾肿瘤病例。结论:研究结果显示该病的高外显率,并关注该病对患者健康和生活质量造成的巨大负担,强调儿童早期监测对尽早发现和管理该病的重要性。
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来源期刊
CiteScore
3.10
自引率
4.80%
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0
期刊介绍: The aim of the International Journal of Endocrinology and Metabolism (IJEM) is to increase knowledge, stimulate research in the field of endocrinology, and promote better management of patients with endocrinological disorders. To achieve this goal, the journal publishes original research papers on human, animal and cell culture studies relevant to endocrinology.
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