Conclusiones. Es importante para el urólogo el conocimiento básico de la enfermedad de von Hippel-Lindau porque las manifestaciones genitourinarias de ella. Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell. Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of .

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For CNS hemangioblastomas and visceral lesions, starting age was in line with current surveillance guidelines. Cancer and benign tumors.

Disorders of translation and posttranslational modification. VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.

Several groups report a reduced risk for renal cell carcinoma in individuals with a deletion of VHL [ Cybulski et alMaranchie et alMcNeill et al ]. To establish the extent of disease and needs in an individual diagnosed with von Hippel-Lindau VHL syndrome, the evaluations summarized in Table 2 if not performed as part of the evaluation that led to the diagnosis are recommended. While the number of retinal angiomas does not appear to increase with enfremedad, the probability of vision loss does [ Kreusel et al ].

They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract.


Orphanet: Diagn stico de la enfermedad de Von Hippel Lindau gen VHL

Roberts AM, Ohh M. For individuals with VHL syndrome, those with a VHL pathogenic variantand at-risk relatives of unknown genetic status:. Image-guided stereotactic radiosurgery for treatment of spinal hemangioblastoma. Articles Cases Courses Quiz.

Von Hippel–Lindau disease – Wikipedia

A younger individual, especially one with multiple lesions, is more likely to have a germline VHL pathogenic variant than an older individual with a single lesion [ Binderup et al a ]. Blood Cells Mol Dis. Sturge—Weber syndrome Von Hippel—Lindau disease.

Functional outcome after resection of von Hippel-Lindau disease-associated cauda equina hemangioblastomas: Advances in Experimental Medicine and Biology. There is a genetic test for VHL. The tumors are most often located in the temporal periphery of the retina with feeder and draining vessels going to and from the optic disc. An inherited mutation of the Hippeo gene is responsible for the remaining 80 percent of cases.

Von Hippel-Lindau Disease

The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. One individual showed an increase in cyst volume along with a decrease of the size of the mural nodule [ Goyal et al ]. JAMA,pp. See Molecular Genetics for information on allelic variants detected in this gene. As a result, loss of vision is very common.

Von Hippel–Lindau disease

Autosomal dominant disorders Rare diseases Hereditary cancers Genodermatoses Syndromes. Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. A retrospective study with a mean follow-up time of 21 months confirmed that microsurgical treatment of symptomatic spinal cord hemangioblastomas was safe and effective.

Another study showed a recurrence-free survival in six of eight individuals at a mean follow up of 48 months. Ultra-widefield fluorescein angiography can be useful in the evaluation and management of retinal hemangioblatoma. Recommended in symptomatic individuals: Pathogenic variants in VHL cause misfolding and subsequent chaperonin-mediated breakdown [ Feldman et al ].


Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Guidelines may vary somewhat depending on the local standard of care. Histopathology, 33pp.

Large endolymphatic sac tumors can involve other cranial nerves. Gln Glu, p. The major complication rate need for a radiologic, surgical, or endoscopic intervention for laparoscopic and percutaneous radio frequency ablation therapy was 7. The tumors are usually benign non-cancerous. If the VHL pathogenic variant in the family is knownmolecular genetic testing can be used for early identification of at-risk family members to improve diagnostic certainty and reduce the need for screening procedures in those at-risk family members who have not inherited the pathogenic variant [ Priesemann et al ].

Mutations of von Hippel-Lindau tumor-suppressor gene and enfermeddad polycythemia. Si continua navegando, consideramos que acepta su uso. Pheochromocytoma, retinal angiomas, CNS hemangioblastoma, pancreatic cysts and neuroendocrine tumors with a high risk for renal carcinoma.