title: [Family survey and clinical analysis of von Hippel-Lindau syndrome].
abstract: OBJECTIVE
  To study the clinical characteristics and summary diagnostic and therapeutical experience of von Hippel-Lindau syndrome.
  
  
  METHODS
  von Hippel-Lindau syndrome genealogy and clinical characteristics was investigated. Then a dendrogram was drawn and a genetic analysis was performed. Last the diagnostic and therapeutical experience of von Hippel-Lindau syndrome was investigated according to literatures.
  
  
  RESULTS
  There are 6 members attacked by the von Hippel-Lindau syndrome of 5 generations which includes 42 members. Three patients underwent operation. Two of the three patients who suffered operation had been removed of right lobe of liver tumor and one cerebellar hemangioblastomas independently. The third patient sustained three operations for removal of three cerebellar hemangioblastomas and left renal clear cell carcinoma. Three patients died of this syndrome.
  
  
  CONCLUSIONS
  The characteristic of this kindred is according with that of autosomal dominant inheritance disease. Until now, von Hippel-Lindau syndrome involves in multisystem, the prognosis of this syndrome is not very well. However, patients and their family members may get much benefit from genetic testing, periodic surveillance, early diagnosis and prompt treatment.
authors.affiliation: Department of General Surgery, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
authors.forename: Jiang-ming
authors.initials: JM
authors.lastname: Chen
authors.forename: Fu-bao
authors.initials: FB
authors.lastname: Liu
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Geng
authors.forename: Yi-jun
authors.initials: YJ
authors.lastname: Zhao
authors.forename: Hong-chuan
authors.initials: HC
authors.lastname: Zhao
authors.forename: Guo-bin
authors.initials: GB
authors.lastname: Wang
authors.forename: Fan
authors.initials: F
authors.lastname: Huang
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology / Q000601:surgery