Subject: TSC
Subject: seizures
Subject: hypomelanotic macules
Subject: subependymal nodules
Subject: sirolimus
Year: 2021
Type: Article
Title: GENETIC TESTING ESSENTIAL IN EARLY DIAGNOSIS AND TREATMENT IN TUBEROUS SCLEROSIS COMPLEX
Author: Nonkulovski Danilo
Author: Duma Filip
Author: Muaremoska Kanzoska Lejla
Author: Alili Ademi Learta
Author: Cilevska Mladenovska Sanja
Author: Cilevska Sandra
Author: Serafimova Emilija
Author: Kirovski Ilija
Author: Pandovska Bisera
Abstract: Introduction: Tuberous sclerosis complex (TSC) is rare genetic neuro cutaneous disease. It is characterized by cutaneous changes and formation of hamartomas in multiple organs with consecutive, mostly neurologic conditions that lead to morbidity and mortality. The affected genes are TSC complex subunit 1 and TSC complex subunit 2, encoding hamartin and tuberin respectively. Failure in formation of TSC1:TSC2 complex is culminating in loss of tonic inhibition of the mechanistic target of rapamycin (mTOR) pathway that leads to deregulation of protein synthesis and cell growing. The mTOR inhibitors, rapamycin (sirolimus) and everolimus improve pulmonary function in patients with TSC and reduce the size of renal and brain lesions
Publisher: Macedonian Association of Anatomists and Physiologists
Relation: Acta morphologica
Identifier: oai:repository.ukim.mk:20.500.12188/15925
Identifier: http://hdl.handle.net/20.500.12188/15925Identifier: 18
Identifier: 1
