Von Hippel-Lindau syndrome: a rare syndrome as the clue for the molecular basis of common renal disorders

Multiple renal cysts, bilateral renal cell carcinomas, hypertension (as a result of pheochromocytomas), retinal angiomatosis, and CNS hemangioblastomas are the principal features of Von Hippel-Lindau syndrome [1]. Nephrologists will therefore be confronted with this disease. Although it is regarded a rare disorder, its importance reaches far beyond the relatively modest number of affected individuals. Systematic studies of the Von Hippel-Lindau syndrome have provided far reaching insight into the molecular genetics of renal disease. Clinical studies of patients with Von Hippel-Lindau syndrome are a rewarding exercise, since the lesions, though rare in absolute terms, are often life-threatening if left untreated, yet curable if detected in time [2]. The key to the detection of such asymptomatic lesions is an understanding of the genetics of the disease. Indeed screening patients with candidate lesions and relatives of affected patients is very effective. We were the first to provide an accurate estimate of the prevalence of Von Hippel-Lindau syndrome, i.e. 1:39 000 to 1:53 000 in the general population, figures which have been confirmed subsequently by others [3]. Based on these figures, it is reasonable to expect that in large European countries like Germany, Great Britain, France, and Spain there are approximately 2000 patients and another 6000 patients in the USA who have the disease.