Tuberous receptor

Tuberous sclerosis complex (TSC), also known as tuberous receptor, is a rare genetic disorder that causes benign tumors to grow in various organs of the body. It is caused by mutations in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. These mutations lead to the overactivation of the mTOR signaling pathway, which regulates cell growth and proliferation.

Symptoms of tuberous sclerosis complex can vary widely among affected individuals. Common manifestations include skin abnormalities such as facial angiofibromas, hypopigmented macules (ash-leaf spots), and shagreen patches. Neurological symptoms may include seizures, intellectual disability, developmental delays, and behavioral problems. Tumors can also develop in the brain, kidneys, heart, lungs, and other organs.

Diagnosis of tuberous sclerosis complex is typically based on clinical features, imaging studies such as MRI or CT scans, and genetic testing to identify mutations in the TSC1 or TSC2 genes. Management of the condition involves a multidisciplinary approach, including regular monitoring for tumor growth, seizure control with antiepileptic medications, and early intervention for developmental delays.

Treatment options for tuberous sclerosis complex depend on the specific symptoms and complications experienced by the individual. Medications such as mTOR inhibitors may be used to shrink tumors and reduce their growth. Surgery may be necessary to remove tumors that are causing significant problems, such as those in the brain or kidneys.

Prognosis for individuals with tuberous sclerosis complex varies depending on the severity of symptoms and the organs affected. With appropriate medical management and support, many individuals with TSC can lead productive lives and achieve a good quality of life.

For more information on related topics, please refer to the following articles:

• TSC1 gene
• TSC2 gene
• mTOR signaling pathway
• Angiofibroma
• Epilepsy