Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, with an incidence of approximately 1 in 6000. It arises from a genetic abnormality involving either the TSC1 gene on chromosome 9, or the TSC2 gene on chromosome 16. The protein product of the TSC1 gene is hamartin and that of TSC2 is tuberin. In cells, hamartin and tuberin form a complex, which inhibits the mammalian target of rapamycin (mTOR), a central controller of cell growth and proliferation [1]. Renal angiomyolipomas (AML) occur in 80% of patients with TSC. These lesions are composed of abnormal blood vessels, smooth muscle and fat cells and they have a tendency to bleed spontaneously, which can lead to life-threatening haemorrhagic shock [2]. Here we report on a patient with TSC suffering from recurrent severe haemorrhage from both kidneys due to extensive AML formation. Because of massive haemorrhage the patient was nephrectomized on the right side. One year later, the remaining left kidney was removed and a pre-emptive living renal transplantation was performed at the same time to prevent further renal haemorrhage. Case