De ziekte van Von Hippel-Lindau

Translated title of the contribution: Von Hippel-Lindau disease

M. Los, T.P. Links, J.W.M. Lenders, E.E. Voest

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Abstract

Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited cancer syndrome. The disease was diagnosed in three patients: a 22-year-old woman who presented with decreased vision due to retinal angiomatosis and in whom a renal carcinoma was diagnosed five years later at a routine VHL analysis, a man aged 44 who died with bilateral renal cysts and clear-cell carcinomas with metastases, who had a positive family history but in whom no regular control investigations had been performed, and a 31-year-old man who also had a positive family history, but who presented with epididymal cystadenoma and who in the subsequent decades developed cerebral and renal neoplasms that all were detected at routine examinations and subsequently removed. These case histories emphasize the importance of: (a) early recognition of patients presenting with a 'sporadic VHL-like' tumour, (b) frequent screening and early treatment of VHL patients and (c) nephron sparing surgery in VHL patients. The prognosis and quality of life of patients with VHL disease has significantly increased by early detection and treatment of asymptomatic tumours, in particular in the eye and kidney.
Translated title of the contributionVon Hippel-Lindau disease
Original languageDutch
Pages (from-to)497-501
Number of pages5
JournalNederlands Tijdschrift voor Geneeskunde
Volume144
Issue number11
Publication statusPublished - 11-Mar-2000

Keywords

  • adult
  • article
  • autosomal dominant disorder
  • brain cancer
  • case report
  • clear cell carcinoma
  • cystadenoma
  • female
  • human
  • kidney carcinoma
  • kidney cyst
  • male
  • metastasis
  • quality of life
  • visual impairment
  • von Hippel Lindau disease

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