SURGICAL-MANAGEMENT OF THE RENAL MANIFESTATIONS OF VON-HIPPEL-LINDAU-DISEASE - A REVIEW OF A UNITED-KINGDOM CASE SERIES

Objectives To review the results of nephron-sparing surgery in a group of patients with non Hippel-Lindau (VHL) disease, a rare familial can cer syndrome which is dominantly inherited and predisposes affected in dividuals to developing various tumours, including haemangioblastomas of the retina and central nervous system, and multicentric renal cell carcinoma (RCC). Patients and methods The 11 patients (seven men and f our women, age range 27-62 years) assessed had been referred for surve illance to the Department of Clinical Genetics, Addenbrooke's Hospital , often having presented with neurological or ocular manifestations of the disease. Their case notes were reviewed to assess the results of conservative surgery. Five patients had more than one parenchymal-spar ing operation (either partial nephrectomy or enucleation, i.e. removal of a malignant lesion with a 0.5 cm rim of normal tissue) while four had bilateral procedures. At the time of surgery, co-existent cysts we re aspirated to allow a more accurate definition on computed tomograph y during follow-up.Results At a mean follow-up of 60 months after surg ery, eight patients were alive with good renal function. Three patient s were alive with paraplegia or paraparesis from spinal cord lesions. The three patients who died (aged 50, 40 and 31 years) were diagnosed when RCC was already advanced and renal tissue-preserving surgery was not possible. Conclusion Nephron-sparing surgery may be justified beca use morbidity is reduced in patients whose quality of life may already be compromised by neurological and other problems, and because the le sions of RCC are often small, enucleation may also be justifiable in t he attempt to conserve renal tissue and delay disease progression.