VON HIPPEL-LINDAU DISEASE, DESCRIPTION, GENETICS, MOLECULAR BASIS, CLASSIFICATION AND MANIFESTATIONS OF THE DISEASE
نویسندگان
چکیده
Introduction: Von Hippel-Lindau disease (VHL) is autosomal dominant tumor syndrome that debuts mostly in young adults , patients with this are linked to the triggering of various types benign and malignant neoplasms multiple locations, systems organs, particular affecting more nervous system other internal organs. Approximately shows an incidence rate 1 36,000 live births a penetrance greater than 90%. The molecular basis VHL impairment protein function consequent clustering hypoxia-inducible factors subsequent consequences on cell differentiation metabolism. Objective: present current information related disease, description, genetics, basis, classification manifestations disease. Methodology: total 33 articles were analyzed review, including review original articles, as well clinical cases, which 26 bibliographies used because not relevant study. sources PubMed, Google Scholar Cochrane; terms search for Spanish, Portuguese English were: Hippel-Lindau, VHL, suppressor gene, pheochromocytoma, hemangioblastomas. Results: has approximately births, over These tumors initiated by inactivation biallelic pathologic activation hypoxic gene response pathways. Conclusions: disorder generated mutations gene. Within field intrafamilial variation may evidence correctly shaped genotype-phenotype connections renal cancer pheochromocytoma risks. Visceral cysts (renal, pancreatic epididymal) frequent, however organ involvement rare. They usually occur hemangioblastomas central retina, cancers. Unusually it includes non-functioning endocrine cancers, adrenal extra-adrenal pheochromocytomas, endolymphatic sac tumors, head neck paragangliomas. KEYWORDS: suppressor, tumor,
منابع مشابه
Neurotologic manifestations of von Hippel Lindau disease.
Von Hippel Lindau disease is a hereditary phakomatosis characterized by congenital angiomatosis of the retina and cerebellum. This autosomal dominant syndrome exhibits variable penetrance and expressivity. Because of the marked clinical variability and sporadic age of onset, members of affected families must be counseled and screening protocols established. It has been recommended that initial ...
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...
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ژورنال
عنوان ژورنال: EPRA international journal of multidisciplinary research
سال: 2023
ISSN: ['2455-3662']
DOI: https://doi.org/10.36713/epra12759