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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Abdominal ultrasound examination after age 16 yrs. Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. Binderup et al hipple described a male with demonstrable hearing loss by audiometric data whose ELST was only detectable with MRI more than one year later, after he already had complete right-sided hearing loss.

Laparoscopic approaches have been shown to be effective and safe [ Linday et alAgarwal et al ]. Retin Cases Brief Rep.

Pheochromocytoma, retinal angiomas, CNS hemangioblastoma, pancreatic cysts and neuroendocrine tumors with a high risk for renal carcinoma. Clinical symptoms depend on the site of the tumor: The use and interpretation of commercial APC gene testing for familial adenomatous polyposis.

Improved surveillance guidelines have increased the life expectancy of individuals with VHL by more than 16 years since [ Wilding et al ].

Endolymphatic enfermrdad carcinoma of the right petrous bone in Von Hippel-Lindau disease. Archived from the original on However, smaller lesions treated with radio frequency ablation need frequent intervention [ Joly et linda ]. Ann Otol Rhinol Laryngol,pp. J Clin Endocrinol Metab.

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

Therefore, there is a rationale for performing preclinical and clinical studies in optimized HIF2A inhibitors [ Metelo et al ]. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a yippel symptom.


Tumors from the same patient have distinct somatic variant sets suggesting patient-specific factors e. Sibs of a proband. Distress in partners of individuals diagnosed with or at high risk of ejfermedad tumors due to rare hereditary cancer syndromes.

Two studies evaluated the implementation of national surveillance guidelines in Denmark and the Netherlands.

Von Hippel–Lindau disease

Science,pp. Recurrent tumors have been noted, even after many years, but some may be new tumors in the same general area rather than recurrent disease.

Otolaryngol Head Neck Surg,pp. Lindaj experts advocate routine screening starting in adolescence. Gly 93 Glu, p. Leukoencephalopathy with vanishing white matter snRNP: Evaluate suspicious lesions in kidney, adrenal gland, or pancreas by more sophisticated techniques e. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

Case 4 Case 4. No additional families with VHL hypermethylation enfdrmedad been identified.

A recent study showed a decrease in new VHL manifestations during pregnancy [ Binderup et al ]. Von Hippel-Lindau syndrome linvau be suspected in individuals with or without a family history of VHL who have:.

J Am Med Ass,pp. Renal tumor size is an independent prognostic factor for overall survival in von Hippel-Lindau disease. Option 2 When the phenotype is indistinguishable from many other inherited disorders characterized by tumors, comprehensive genomic testing which does not require the clinician to determine which gene [s] are likely involved is the best option. Uptake of prenatal diagnostic testing for retinoblastoma hiippel to other hereditary cancer syndromes in the Netherlands.

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. As all the tumours associated with VHL disease can be found sporadically, at least two tumours must be identified to diagnose VHL disease in a person without a family history.


Neurosurg Rev, 23pp. However, possible non-medical explanations including alternate paternity or maternity e. Tests of retinal function may be abnormal even in the presence of quiescent nefermedad angiomas [ Kreusel et al ]. A pilot study to assess the safety and efficacy of another TKI, dovitinib, for the treatment of asymptomatic hemangioblastomas in individuals with VHL resulted in termination of the study after adverse events in all six individuals.

Von Hippel-Lindau Disease

The familial VHL pathogenic variant may not be detectable by the assays used. Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. Offspring of a proband.

J Neurol Neurosurg Psychiatry, 61pp. Loading Stack – 0 images remaining. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. The diagnosis of VHL is established in a proband who fulfills existing diagnostic clinical criteria. Spinal hemangioblastomas and related syrinx usually present with pain.

Synonymous pathogenic variants in VHL exon 2 that alter splicing through exon 2-skipping are associated with erythrocytosis or VHL disease in five families [ Lenglet et al ]. Review Von Hippel-Lindau syndrome. Differential Diagnosis Isolated hemangioblastoma, retinal angioma, or clear cell renal cell carcinoma.