Effect of raoamycin on tubroma, renal angiomyolipoma and frequency of seizures in children with tuberous sclerosis

Introduction: Tuberous Sclerosis complex (TSC) is a rare genetic disease with a dominant autosomal inheritance, which characterized by the development of benigntumors in various organs. Rapamycin (mTOR inhibitor) has been proven to be effective in treating the manifestation of TSC. In this study, we evaluate the effectiveness ofrapamycin on the size of subependymal giant cell astrocytoma, cortical tubers, renal angiomyolipomas, seizures frequencies, development and learning skills on affectedindividuals. Methods: Between ۲۰۱۷, and ۲۰۱۸, eligible patients (Median age ۹/۷±۵) with a definite diagnosis of TCS were enrolled in the study. Rapamycin was prescribed for one year. Periodic evaluations and laboratory tests were done every two weeks for one month, then every six months. After gathering the Data, Statistical analysis were done with SPSS software. Results: This study was conducted with a view of the low prevalence of illness in Iran and the world with a small sample size. During the study, the number of brain tubers (PValue< ۰.۰۰۱) and their size (P-Value=۰.۰۲۹), the size of renal angiomyolipomas (PValue< ۰.۰۰۰۱) and skin lesions (P-Value<۰.۰۰۱) were significantly reduced, and the progression of lesions didn't occur. Frequencies of seizures decreased during treatment (P-Value<۰.۰۰۰۱) and nine of patients were seizure free. Results didn’t found any significant effect in development or learning skills in patients. Adverse effects led to discontinuation in two patients because of one secondary amenorrhea and swelling in lower extremities, one case with sepsis that led to death. Conclusion: This study showed that Rapamycin is effective in patients with tuberous sclerosis in Iran. There was no relationship between the effect of this drug on the age and sex of the patients, which indicates that the drug can be prescribe in any age and sex.

کلیدواژه ها:

Rapamycin ، Tubroma ، Renal Angiomyolipoma ، Seizures ، Tuberous Sclerosis.