ENFERMEDAD DE VON HIPPEL LINDAU PDF

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 .

Author: Shakticage Nitilar
Country: Chad
Language: English (Spanish)
Genre: Software
Published (Last): 3 April 2015
Pages: 402
PDF File Size: 16.67 Mb
ePub File Size: 11.76 Mb
ISBN: 812-2-94087-532-2
Downloads: 70147
Price: Free* [*Free Regsitration Required]
Uploader: Kazrajora

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

Genotype-phenotype correlations in VHL exon deletions. Otolaryngol Head Neck Surg,pp. 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. Identification of a heterozygous germline ve variant in VHL by molecular genetic testing Table 1 establishes the diagnosis and supports dr follow up even if clinical and radiographic features are inconclusive.

J Clin Endocrinol Metab. Data are compiled from the following standard references: In counseling such individuals, careful consideration should be enfermedsd to the strength of the clinical diagnosis of VHL syndrome in the affected family member, the relationship of the at-risk individual to the affected family member, the perceived risk of an undetected VHL or other gene pathogenic variantand the potential need for some form of continued clinical surveillance.

A molecular diagnosis of VHL is nowadays available, and this has change the clinical management of patients and their families.

Most commonly these are either within the abdominal cavity or affect the central nervous system. Retin Cases Brief Rep. Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.

Si continua navegando, consideramos que acepta su uso. The diagnosis of VHL is established emfermedad a proband who fulfills existing diagnostic clinical criteria. Relatamos un caso recientemente tratado de un TSE.

  GNIIT SYLLABUS PDF

Von Hippel–Lindau disease

For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use. However, smaller lesions treated with radio frequency ablation need frequent intervention [ Joly et al ]. For information on selection criteria, click here. Check for retinal hemangioblastomas. CNS hemangioblastomas remain the main cause of death, although VHL-related survival has improved over the years [ Binderup et hipepl b ].

No further modifications are allowed. Special attention should be paid to pheochromocytoma and cerebellar hemangioblastoma. University of Washington, Seattle; Von Hippel-Lindau disease tumor suppressor.

Enfermefad sequencing is most commonly used; genome sequencing is also possible. The arginine codon is considered a mutational ” hot spot. Guidelines may vary somewhat depending on the local standard of care. According to their results, surveillance for retinal angiomas is essential during teenage years and CNS hemangioblastomas enfegmedad mainly important in adults.

If the VHL pathogenic variant in the proband is not known, ophthalmologic screening and abdominal ultrasound evaluation, at a minimum, should be offered to both parents.

National Center for Biotechnology InformationU. A case study showed complete loss of stromal cells after a standard dose of SRS for hemangioblastoma, indicating vob effectiveness of the treatment [ Nambu et al ].

They also showed that the risk for manifestations was not constant, but varied throughout the affected individual’s lifetime [ Binderup et al ]. Risk of new tumors in von Hippel-Lindau patients depends on age and genotype.

Paediatric pancreatic neuroendocrine tumours in von Hippel-Lindau disease. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Nippel review our privacy policy. How a rare disease illuminates cancer biology” PDF.

However, a negative test for df VHL pathogenic variant in an at-risk family member under such circumstances suggests one of the following possibilities:. Butman et al []. Depending on the size and location of the tumor, nephron-sparing or partial nephrectomy may be possible without compromising survival [ Grubb et al ].

  ALPINE PXA-H700 PDF

Because the phenotype of VHL is broad, individuals with the distinctive features described in Suggestive Findings are likely to be diagnosed using gene-targeted testing see Option 1whereas those with a phenotype indistinguishable from many other inherited disorders associated with an increased risk of tumors are more ilndau to be diagnosed using genomic testing see Option 2.

Because early detection of at-risk individuals affects medical management, testing of asymptomatic individuals during childhood is beneficial [ Binderup et al aVHL Handbook ].

Von Hippel-Lindau Syndrome – GeneReviews® – NCBI Bookshelf

Molecular genetic testing of at-risk family members is appropriate in order to determine the need for continued clinical surveillance. Furthermore, mutated pVHL may predispose enfermdad pheochromocytoma by altering the balance among a group of proteins in a molecular pathway that controls apoptosis of sympatho-adrenal precursor cells during development.

Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: The American Society of Clinical Oncology identifies VHL syndrome as a Group 1 disorder — a hereditary disease for which genetic testing is considered part of the standard management for at-risk family members [ Robson et al ] full text.

Multiple endocrine neoplasia type 2 MEN2. One study showed that in adulthood, men have more VHL manifestations compared to women. Ann Otol Rhinol Laryngol,pp. Congenital erythrocytosis is endemic in subpopulations worldwide; pathogenic variants in VHL are the most common enfermsdad of congenital erythrocytosis [ Pastore et al ].

However, the second copy still produces a functional protein.