title: [Role of echography in the diagnosis, screening, and follow-up of patients with von Hippel-Lindau syndrome].
abstract: Von Hippel-Lindau (VHL) disease is a genetic disorder characterized by hemangioblastomas of the brain and spinal cord, retinal angiomas, pancreatic cysts, pheochromocytomas, epididymal cystadenomas and renal cysts and neoplasms. These disease is transmitted in an autosomal dominant fashion and the gene associated with transmission of VHL has been localized to the 3p25-3p26 region of chromosome 3. In this study we examined a family with von Hippel-Lindau disease established of mother and three children and five progeny. These patients were evaluated with urinary tract echography, computerized tomography, DNA sequencing with polymerase chain reactions (PCR) and SSCP analysis. The ultrasonography is utilized to diagnosis, screening and in the follow-up of undergone surgery patient's. With this study we examined the role of echography in patients with von Hippel-Lindau disease.
authors.affiliation: Clinica Urologica, Università degli Studi G. D'Annunzio, Chietti.
authors.forename: R
authors.initials: R
authors.lastname: De Thomasis
authors.forename: M
authors.initials: M
authors.lastname: Nicolai
authors.forename: C
authors.initials: C
authors.lastname: Menna
authors.forename: D
authors.initials: D
authors.lastname: Longeri
authors.forename: Q
authors.initials: Q
authors.lastname: Palucci
authors.forename: R
authors.initials: R
authors.lastname: Tenaglia
mesh_terms: D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014463:Ultrasonography; D006623:von Hippel-Lindau Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery
vernacular_title: Ruolo dell'ecografia nella diagnosi, nello screening e nel follow-up dei pazienti affetti da sindrome di von Hippel-Lindau.