RENAL INVOLVEMENT IN VON-HIPPEL-LINDAU DISEASE

Renal involvement in von Hippel-Lindau (VHL) disease has emerged as th e most prevalent cause of death in this hereditary disorder. In a grou p of 43 VHL patients (23 unrelated families) with renal lesions we exa mined whether severity of renal disease is affected by parental inheri tance and VHL subtype (1, without pheochromocytoma; ?, with pheochromo cytoma). We also tested whether and how nephron-sparing surgery could be applied. Renal involvement comprised multiple cysts and bilateral a nd multifocal carcinomas (RCC) which were detected by screening in 38 patients, al 30.5 (14 to 62) years of age. The severity of the renal d isease was similar in VHL type 1 (79% of the pedigrees) and 2 (21%). I t was not influenced by the sex of the carrier. Twenty-nine patients w ere operated on at a mean age of 33.6 years: 21 patients (28 kidneys o r 61% of all operated kidneys) underwent nephron-sparing surgery, 4 ha d complete ablation of involved kidneys and thus required dialysis, 3 had uninephrectomy and I had cyst fenestration. Vascular thrombosis wa s the most severe early complication. It occurred in 1 of 9 kidneys tr eated by ex vivo surgery. During a median follow-up of 29 months, loca l recurrence occurred in 5 of 21 (24%) patients treated by nephron-spa ring surgery, whereas 2 developed metastasis. Chronic renal failure (c reatinine > 120 mu mol/liter) affected 11 patients: in 9 of them, it w as due to sequelae of surgery. In conclusion, screening of RCC and nep hron-sparing surgery are of value in VHL patients. However, indication s of rr vivo surgery should be drastically restricted and renal sequel ae are nor uncommon. Renal followup is required because of the risk of recurrence.