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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Its role in renal cancer. Renal tumours may be removed by a partial nephrectomy or other techniques such as radiofrequency ablation.

Von Hippel-Lindau Disease

Two individuals required additional surgery for persisting cerebellar symptoms. Radiofrequency ablation for renal cancer in Von Hippel-Lindau syndrome patients: Two recent studies evaluated tumor progression. N Engl J Med. Genotype-Phenotype Correlations Four general VHL syndrome phenotypes type 1, type 2A, type 2B, type 2C have been suggested based on the likelihood of pheochromocytoma or renal cell carcinoma. VHL pathogenic variants are highly penetrant. Genetic diagnosis is also useful in VHL disease diagnosis.

Option 1 When the phenotypic, laboratory, and radiographic findings suggest the diagnosis of VHL molecular genetic testing approaches can include single- gene testing or use of a multigene panel.

External beam radiotherapy has been shown to be useful when standard therapy has not prevented progression [ Raja et al ]. Exome array when clinically available may be enferedad if exome sequencing is not diagnostic. The major complication rate need for a radiologic, surgical, or endoscopic intervention for laparoscopic and percutaneous radio frequency ablation therapy was 7. Von Hippel-Lindau syndrome should be suspected in individuals with or without a family history of VHL who have:.


A recent study reported no complications after 19 radio frequency ablation treatments in individuals with VHL [ Allasia vn al enfermedax. Intravitreal injections of bevacizumab, another VEGF inhibitor, have also proven effective in treating retinal hemangioblastomas in individuals with VHL [ Hrisomalos et al enfermdead.

Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors. For a detailed summary of gene and protein information, see Table AGene. Therapeutic modalities used to treat retinal hemangioblastomas include diathermy, xenon, laser, and cryocoagulation, with variable degrees of success depending on the location, size, and number of lesions.

Survival and causes of death in patients with von Hippel-Lindau disease.

Von Hippel-Lindau Disease: MedlinePlus

Sunitinib has also been shown to effectively treat clear cell renal cell carcinomas — but not hemangioblastomas — in individuals with VHL [ Jonasch et al ]. PMC ] [ Enfermrdad Obsolete terms for VHL syndrome include: Endemic polycythemia in Russia: A recent study showed a decrease in new VHL manifestations during pregnancy [ Binderup et al ].

Stereotactic radiosurgery in hemangioblastoma: Leukoencephalopathy with vanishing white matter snRNP: Cancer, 64pp. JAMA,pp. Am J Med Genet.

About Blog Go ad-free. Epub ahead of print. If the VHL pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is low but greater than that of the general population because of the possibility of parental germline mosaicism.

Chronic ataluren PTC treatment of nonsense mutation cystic fibrosis. Clinical features envermedad natural history of von Hippel-Lindau disease. Every cell in the body has 2 copies of every gene bar those found in the sex chromosomes, X and Y. The clinical sensitivity of molecular genetic testing of Enfermexad makes it possible to effectively rule out von Hippel-Lindau VHL syndrome with a high degree of certainty in individuals with 1 isolated hemangioblastoma, retinal angioma, or clear cell renal cell carcinoma and 2 no detectable germline VHL pathogenic variant.

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The disease is rare with an estimated prevalence of 1: Audiology can be used to detect early hearing loss.

Von Hippel–Lindau disease – Wikipedia

Intravitreal bevacizumab and feeder vessel laser treatment for a posteriorly located retinal capillary hemangioma. The tumors lihdau most often located in the temporal periphery of the retina with feeder and draining vessels going to and from the optic disc.

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Proteomic analyses indicate that the isoforms have both distinct and overlapping interaction partners [ Minervini et al ]. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss.

Familial erythrocytosis type 2 is caused by hkppel pathogenic variants in VHL resulting in retention of a cryptic exon in intron 1 [ Lenglet et al ]. Views Read Edit View history. Furthermore, mutated pVHL may predispose to pheochromocytoma by altering the balance among a group of proteins in a molecular pathway that controls apoptosis of sympatho-adrenal precursor cells during development.

National Center for Biotechnology InformationU. Linrau Hippel-Lindau disease vHL. Monitoring for complications is summarized in Table 3. Some clustering of tumors occurs, resulting in the designation of specific VHL syndrome phenotypes. However, some results suggest that mosaicism contributes more to VHL syndrome than is currently thought.

Invest Ophthalmol Vis Sci. National clinical guideline for diagnosis and surveillance in Denmark.

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