Esclerosis Tuberosa: presentación de un caso clínico
- Susana Rivera García
- Ana Arévalo Gómez
- Fernando de la Iglesia Martínez
- Cardoso, M Teresa
ISSN: 0304-4866, 1989-3922
Year of publication: 2021
Volume: 82
Issue: 1
Pages: 26-29
Type: Article
More publications in: Galicia Clínica
Abstract
Tuberous Sclerosis (TS) or Tuberous Sclerosis Complex is an autosomal dominant genetic disorder that affects children and adults. It is due to the partial or total absence of the expression of the TSC1 (hamartin) or TSC2 (tuberin) genes, which generates organic dysfunction due to the growth of hamartomas in the central nervous system, kidney, heart, lung and skin. A protocolized follow-up helps us to confirm the diagnosis as well as to promptly detect clinically significant complications. It also allows us to identify carriers of mutations among relatives and effectively carry out genetic counseling tasks