SP887LONG-TERM RENAL OUTCOME OF A LARGE COHORT OF PATIENTS WITH TUBEROUS SCLEROSIS COMPLEX

Abstract

Objective: Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by hamartomas in multiple organs. Renal involvement represents the second most important cause of morbidity and mortality at all ages. However, very little is known about the natural history of these renal features in adults and even less in children and adolescents with TSC. The purpose of this study is to explore the renal phenotype and long-term renal outcome in a large TSC cohort. Method(s): We assessed the clinical records and renal imaging of TSC patients from two tertiary hospitals in a crosssectional study. Demographics, renal phenotype, renal outcome and co-morbidity data were assessed retrospectively. Result(s): We included 82 patients (male/female ratio: 1.6). Fifty patients (61%) were younger than 18 years. Median age at last followup was 15.4 (range 1.4-72.5) years with a median follow-up of 11.1 (0.9-56.6) years. Presenting features (N=69) were neurological complications in 45 patients (65%) and renal manifestations in only 4 patients (6%). TSC1 and TSC2 mutations (N=63) were found in 17 (27%) and 37 (59%) patients respectively. Two patients (3%) had a contiguous gene deletion syndrome. Renal ultrasound at last follow-up (N=64) showed renal angiomyolipomas in 37 patients (58%) and renal cysts in 36 patients (56%). Estimated glomerular filtration rate (eGFR) was <90 ml/min/m2 in 25 patients (35%). End stage renal disease (ESRD) was seen in 6 patients (8%) with a median age at start of renal replacement therapy of 47.0 (21.0-64.0) years. Hypertension (N=52), proteinuria (N=31) and renal complications (bleeding, RCC or surgery) were found in 12 (23%), 5 (16%) and 8 (10%) patients respectively. Conclusion(s): Our findings confirm the high rate of renal involvement in TSC patients. Therefore, we advocate regular renal surveillance of these patients for optimal management of renal co-morbidities.