Neurological manifestations of tuberous sclerosis are more common in patients with earlier stages than in the end stage of the chronic kidney disease: Multicentric study from South-Eastern Europe countries

Abstract

Background Tuberous sclerosis is a rare, genetic disease with the various clinical presentations with most frequent clinical presentation which includes epileptic seizures and cognitive disorders. The main cause of mortality in those group of patients is renal impairment., and in some cases, neurological and renal clinical manifestation can be followed, but can also be the main therapeutic aim of mTOR inhibitors. Here, we aimed to correlate neurological symptoms with different stages of chronic kidney disease. Methods This multicentric retrospective study included 51 patients from clinical centres from seven South-Eastern Europe countries We included patients older then 18 years with possible or definitive diagnosis of TSC. Data were collected from nephrological and neurological registries form clinical centres. Results Study enrolled 51 patients with a median age of 32.3 years and predominant female gender. Neurological symptoms represented with epiletic sizures were more common in patients in earlier stages of CKD (nonESRD patients) then in patients in the end-stage renal disease. Conclusion Results of this study have shown that neurological manifestation in analyzed cohort correlate with renal lesions in early stage of chronic kidney disease.