Renal cell carcinoma is very rare in TSC. In cases of severe pain or bleeding, angiomyolipomas can be removed by surgery. Today, doctors can use drug therapy to shrink angiomyolipomas or can destroy individual tumors by embolization before they get too large and compromise healthy kidney tissue. In the past, kidney failure was almost inevitable.
The tumors in the kidney (renal angiomyolipomas) can become so large they eventually disrupt normal kidney function or begin to bleed internally. Tumors in the eyes are not common but can present problems if they grow and block too much of the retina. These heart tumors, called cardiac rhabdomyomas, can cause problems at birth if they are blocking the flow of blood or causing severe abnormalities in the heart’s rhythm. In the heart, the tumors are usually at their largest at birth and then decrease in size as the individual gets older. This blockage can lead to behavioral changes, nausea, headaches or a number of other symptoms. Certain tumors, called subependymal giant cell astrocytomas, or SEGAs, can grow in the brain of people with TSC and may block the flow of cerebrospinal fluid in the spaces (ventricles) in the brain. The growth of tumors resulting from tuberous sclerosis complex is not as severely unregulated as in cancer, but these tumors may still cause serious problems. However, researchers are still working diligently to figure out why TSC is manifested so differently between different people. Hamartin, tuberin, and mTOR are expressed in many different organs throughout the body, which explains why so many organs can be affected by TSC. When either the TSC1 or TSC2 gene is defective, cell growth is not adequately controlled and tuberous sclerosis complex results. How Can So Many Different Organs Be Affected by TSC?īoth the TSC1 and TSC2 genes suppress tumor growth in the body by carefully regulating cell growth through inhibition of a protein called mechanistic target of rapamycin, or mTOR for short. Laboratory research on the function of these genes over the past decade has led to a new drug therapy for two types of tumors in TSC. The other gene, TSC2, is located on chromosome 16 and directs production of the protein called tuberin. The TSC1 gene is located on chromosome 9 and directs production of the protein called hamartin. Only one of the genes needs to be affected for TSC to be present.
Two genes have been identified that can cause tuberous sclerosis complex. The other two-thirds result from a spontaneous and unpredictable mutation occurring during conception or very early development of the human embryo. At this point, only one-third of TSC cases are known to be inherited. Children have a 50 percent chance of inheriting TSC if one of their parents has this condition. Tuberous sclerosis complex is a genetic disease that can be inherited from one parent with TSC or can result from a spontaneous genetic mutation. Many cases may remain undiagnosed for years or decades due to the relative obscurity of the disease and the mild form symptoms may take in some people. Nearly 1 million people worldwide are estimated to have TSC, with approximately 50,000 in the United States. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. How Many People Have TSC?Īt least two children born each day will have tuberous sclerosis complex. The incidence and severity of the various aspects of TSC can vary widely between individuals-even between identical twins. However, many people with TSC are living independent, healthy lives and enjoying challenging professions such as doctors, lawyers, educators and researchers. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism.
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First described in the 1880s by French neurologist Désiré-Magloire Bourneville, tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs.
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