Genetic Diseases of the Kidne... - LIBRIS
Protocols and Video Articles Authored by George Harauz - JoVE
Tubular, Interstitial and Vascular Pathology seen with Glomerular Diseases Tubular, interstitial and vascular injury often accompanies glomerular disease. In this context these three compartments should be carefully evaluated because the lesions that develop participate in the development of renal disease and can influences the clinical outcome. Tuberous sclerosis complex is a hereditary disorder that causes abnormal growths in the brain, changes in the skin, and sometimes tumors in vital organs, such as the heart, kidneys, and lungs. Tuberous sclerosis complex is caused by mutations in a gene.
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The tumors can occur in the heart, skin, brain, kidneys, and other organs. They can sometimes lead to serious health problems. Tuberous sclerosis complex is a rare genetic disorder that causes mostly benign (non-cancerous) tumors to develop and can affect nearly every organ system of the body.
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The condition can lead to a range of different problems, depending on where the tumours grow. Tuberous sclerosis is found in 50% of cases of rabdomyoma (in the other 50% of cases the cardiac tumor is an isolated finding). When there are multiple rabdomyomas the risk of tuberous sclerosis is >90%.
The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs. Tuberous sclerosis is present from birth, although it may not cause obvious problems
Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth.
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Protocols and Video Articles Authored by George Harauz - JoVE
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Incorporation number Y07116-42 ABN 20 681 174 734 Registered Charity CC25313. TSA has received funding from Novartis Pharmaceuticals. Our policy on working with pharmaceutical companies describes how we maintain our independence and integrity. Obesity can initiate and accelerate the progression of kidney diseases. However, it remains unclear how obesity affects renal dysfunction. Here, we show that a newly generated podocyte-specific tubular sclerosis complex 2 (Tsc2) knockout mouse model (Tsc2Δpodocyte) develops proteinuria and dies due to end-stage renal dysfunction by 10 weeks of age.
People with tuberous sclerosis have a 50 percent chance of passing the condition to their children. About one-third of children with TSC inherited the genetic condition from a parent. However, for the other two-thirds of children with TSC, the condition is "spontaneous," meaning that the DNA change is the first instance of that change in the child's family. Genetics. Tuberous sclerosis is caused by mutations in either the TSC1 gene on chromosome 9, or the TSC2 gene on chromosome 16. [] TSC1 and TSC2 genes encode for hamartin (TSC1) and tuberin (TSC2) form a regulatory complex responsible for limiting the activity of an important intracellular regulator of cell growth and metabolism, known as mammalian target of rapamycin complex 1 (mTORC1). 2007-01-18 · What is Tuberous Sclerosis ?-----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.