von hippel-lindau disease: a new approach to an old problem
نویسندگان
چکیده
background von hippel-lindau (vhl) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. this disease can present with different clinical presentations such as; retinal angioma (ra), hemangioblastoma (hb) of the central nervous system (cns), pheochromocytoma (pheo), and epididymal cystadenoma. tumors are usually accompanied with cysts. objectives as the disease can display different clinical presentations, which are mainly unspecific, and considering the importance of an early diagnosis and the proper and early management of it, this study was carried out to present a general overview of vhl. moreover, the present article reviews screening methods and emphasizes the need for increasing the awareness of different health care professionals to diagnose and refer the patients in the early stages. materials and methods a thorough search of internet medical databases, such as pubmed, was carried out on known or suggested; clinical presentations, pathogenesis, screening, causes and criteria for diagnosis of patients and their referrals. results our research demonstrated that vhl is caused by a mutation in the von hippel-lindau (vhl) gene. it also showed that different screening methods can be utilized for the early diagnosis and referral of patients. different clinical presentations of the disease are also elaborated in some detail and their treatment options are discussed. conclusions considering the need for a multidisciplinary approach to vhl, especially, given the number of cases which have been reported and diagnosed in iran, it is of great importance that clinicians remain vigilant in order to identify cases that present with clinical characteristics of the disease, and that they are prompt in referring them to a multidisciplinary vhl clinic. it is also important to establish links with existing vhl family alliances and other related organizations around the world.
منابع مشابه
Von Hippel-Lindau Disease: A New Approach to an Old Problem
BACKGROUND Von Hippel-Lindau (VHL) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. This disease can present with different clinical presentations such as; retinal angioma (RA), hemangioblastoma (HB) of the central nervous system (CNS), pheochromocytoma (Pheo), and epididymal cystadenoma. Tumors are usually accompanied...
متن کاملVon Hippel-Lindau Disease
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...
متن کامل[Von Hippel-Lindau disease].
In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...
متن کاملVon Hippel-Lindau disease.
von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors including retinal and central nervous system hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors and endolymphatic sac tumors (ELSTs). VHL is caused by germline loss of functio...
متن کاملVon Hippel-Lindau disease: an overview.
Von Hippel-Lindau disease is a rare, familial disease consisting of multiple tumors, which can present in the eyes, brain, adrenal gland, pancreas, liver, spinal cord, kidneys, or other areas of the body. The renal tumors are primarily renal cell carcinoma. Renal involvement may be the primary manifestation, but most frequently it is a secondary manifestation. This article presents an overview ...
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عنوان ژورنال:
international journal of endocrinology and metabolismجلد ۱۰، شماره ۴، صفحات ۶۱۹-۶۲۴
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