Perfect match: mTOR inhibitors and tuberous sclerosis complex.
Orphanet J Rare Dis
; 17(1): 106, 2022 03 04.
Article
em En
| MEDLINE
| ID: mdl-35246210
ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with diverse and complex clinical features and involves multiple human systems. TSC-related neurological abnormalities and organ dysfunction greatly affect the quality of life and can even result in death in patients with TSC. It is widely accepted that most TSC-related clinical manifestations are associated with hyperactivation of the mammalian target of rapamycin (mTOR) pathway caused by lossoffunction mutations in TSC1 or TSC2. Remarkable progress in basic and translational research has led to encouraging clinical advances. Although mTOR inhibitors (rapamycin/everolimus) demonstrate great potential in TSC management, two major concerns hamper their generalized application. One is the frequent manifestation of adverse events, such as stomatitis, infections, and menstrual disorders; and the other is the poor response in certain patients. Thus, indicators are required to effectively predict the efficacy of mTOR inhibitors. Herein, we have summarized the current utilization of mTOR inhibitors in the treatment of TSC and focused on their efficacy and safety, in an attempt to provide a reference to guide the treatment of TSC.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esclerose Tuberosa
/
Inibidores de MTOR
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article