[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood].
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain, eyes, heart, kidney and lung. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The most common neurological manifestations of TSC are epilepsy, mental retardation, and autistic behavior. Epilespsy usually occurs during childhood and they need anticonvulsant medications through their life. In adulthood, multiple hamartomas is distributed in the kidney and lung. Individuals with lesions more than 4 cm in diameter or with extensive renal involvement should be referred to a nephrologist or urologist. Understanding variable phenotype expression improve management of TSC.
Kiyoko
Sameshima
S
Division of Neurology, Kanagawa Children's Medical Center.
Hitoshi
Osaka
O
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003266:Continuity of Patient Care; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins