SP010TUBEROUS SCLEROSIS: CLINICAL CHARACTERISTICS AND RENAL MANAGEMENT STRATEGIES-A SINGLE CENTRE EXPERIENCE

Abstract

Introduction and Aims: Tuberous Sclerosis (TS) is a rare genetic disorder affecting multiple organ systems including kidneys, where it presents as angiomyoli-poma (AML) and cysts. With the advent of mTOR inhibitors, the management of this condition has taken a new dimension. As our institution is a tertiary renal and neurological centre, we have a growing cohort of TS patients followed-up in our multi-speciality and multi-disciplinary team (MDT) TS clinic. This study aimed to investigate the clinical characteristics and renal management strategies in our TS cohort. Methods: This is a cross-sectional observational study of all patients registered in our TS database. Clinical characteristics, blood results, radiological features, and management strategies were analysed using SPSS. Pearson's correlation was used to study the correlation between AMLs, age and eGFR.Mean change in eGFR since diagnosis of TS was calculated by the difference between the first and last available eGFR. Results: A total of 25 TS patients are currently followed up in our MDT clinic. Mean age of our cohort was 40 with 14 males and 11 females. So far, 24/25 had some form of imaging (MR or CT scan) of their Abdomen/Kidneys. Of these 24 patients, 15 (63%) had a size of AML >3cm and qualified for mTOR inhibitor therapy based on current international guidelines. 5 had AML size <3cm and 4 with no renal involvement. Mean eGFR of our sample was 74.6ml/min/1.73m2 with the mean haemoglobin 130mg/dl. A clear correlation was not observed between eGFR and the number of AMLs. A linear increasing trend was noted in the size of AMLs with age (Figure-1). Mean change in eGFR over a follow up of 4.6 years was 1.59 ml/min/1.73m2/year. Of the 15 eligible for mTOR inhibitor treatment, eight are on sirolimus, one on everolimus and rest under assessment. On review of neurological manifestations, 85% (17 of the available 20) had radiological evidence of cortical tubers in the brain, 21 had sub-ependymal nodules, 7 had SEGA (astrocytoma). Phenotypically, 14 of 25 had an intellectual disability, with 23 of the 25 patients having active epilepsy; generalised onset in 18 with co-existent focal onset in 17. The seizure type was unclassified in 5 patients. All 25 were on at least two antiepileptic medications. Conclusions: Our study has given a better insight on TS patient characteristics and management strategies. Long term follow-up can better characterise the factors that can determine renal function decline. With expanding indications of the use of mTOR inhibitor a MDT approach would be an appropriate management strategy forward.