ENFERMEDAD DE VON HIPPEL LINDAU PDF
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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Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Infratentorial craniospinal irradiation for von Hippel-Lindau: The unpredictable growth pattern makes it difficult to determine when to start stereotactic therapy in order to yippel unnecessary intervention.
Von Hippel-Lindau Disease
Differences in perspective may exist among medical professionals and in families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Se continuar a navegar, consideramos que aceita o seu uso. In individuals with a family history of VHL disease, one hemangioblastoma, pheochromocytoma or renal cell carcinoma may be sufficient to make a diagnosis.
Genetics of hereditary head and neck paragangliomas. Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: Cystadenomas of the epididymis are relatively common. A plan should be established for the manner in which results are to be given to the parents and their children.
A study demonstrated that for almost one third of individuals assessed for familial adenomatous polyposisan autosomal dominant colon cancer disease, the physician misinterpreted the test results [ Giardiello et al ].
Orphanet: Diagn stico de la enfermedad de Von Hippel Lindau gen VHL
The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. It results from an con of VHL, a tumor suppressor gene located on chromosome 3p Roberts AM, Ohh M. If the pathogenic variant found in the proband cannot be detected in leukocyte DNA of either parent, two possible explanations are a de novo pathogenic variant in the proband or germline mosaicism in a parent.
Data are compiled from the following standard references: Deafness due to bilateral endolymphatic sac tumors in a case of Von Hippel-Lindau syndrome. AJR,pp. However, other organs can be affected: A positive test result signals the presence of a VHL pathogenic variant in the at-risk family member and indicates that the same molecular genetic testing method can be used to assess the genetic status of other at-risk family members.
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. To quiz yourself on this article, log in to see multiple choice questions. Differential expression of enfermedqd in papillary tumors of the endolymphatic sac and choroid plexus. Neuroradiology, 41pp. In ten individuals with VHL, 18 successful operations were performed. Intravitreal injection of propranolol for the treatment of emfermedad capillary hemangioma in a case of Von Hippel-Lindau.
The following discussion summarizes the genotype-phenotype studies published to date, with the cautionary note that further investigation is needed. Many experimental therapies target these misregulated signaling pathways. An intravitreal VEGF receptor inhibitor, ranibizumab, has been used with some success in individuals with retinal hemangioblastomas who have either failed local therapy or whose lesions are not amenable to local therapy [ Wong et al ].
Early detection of retinal hemangioblastomas in Von Hippel-Lindau disease using ultra-widefield fluorescein angiography.
Two or more hemangioblastomas of the retina, spine, or brain or a single hemangioblastoma in association with a visceral manifestation e. Pheochromocytoma, retinal angiomas, CNS hemangioblastoma, pancreatic cysts and neuroendocrine tumors with a high risk for renal carcinoma.
However, a negative test for a VHL pathogenic variant in an at-risk family member under such circumstances suggests one of the following possibilities:. Research by the French VHL Study Group showed a significantly higher complication rate of hemangioblastomas in individuals with VHL who had had at least one pregnancy [ Abadie et al ].
Von Hippel–Lindau disease – Wikipedia
VHL can be classified according to clinical phenotypes, and the classification correlates with particular genotypes Comparison of safety, renal function outcomes and efficacy of laparoscopic and percutaneous radio frequency voh of renal masses. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type II. Nine hemangioblastomas demonstrated expression for at enfermerad three somastatin receptor subtypes 1, 2a, 3, 4, or 5.
Sardi et al  reported three-year stabilization of previously progressive multifocal spinal hemangioblastomas with thalidomide. Evaluation of relatives at risk: Other uncommon names are: Von Hippel- Lindau disease: Archived from the original on VHL type 1 is characterized by a low risk for pheochromocytoma.
Aggressive papillary tumors of the temporal bone.
Pheochromocytoma, retinal angiomas and CNS hemangioblastoma. Sequence analysis detects variants that are benign, likely benign, of uncertain significancelikely pathogenic, or pathogenic. Emfermedad in families with an apparent de novo pathogenic variant.
Machado—Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1.