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Is kidney disease related to tuberous sclerosis?
GaleEncyofNeuroDis
Kidney disease can be a serious medical concern in TS; it is the most frequent cause of death in people with TS older than 30 years. The most common renal finding is the angiomyolipoma.
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What are some of the symptoms of tuberous sclerosis?
Symptoms of tuberous sclerosis can be found in many parts of the body. One can have skin abnormalities including patches of light colored skin or Neurological symptoms such as seizures and behavior problems. Kidney problems and lung problems are also symptoms associated with tuberous sclerosis.
What is tubular 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. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette's syndrome. The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. However, there are also many people with TSC living independent, healthy lives who enjoy challenging professions such as doctors, lawyers, educators and researchers. From the Tuberous Sclerosis Alliance. Go to www.tsalliance.org for more information.
What is the cause of angiomyolipoma?
It is a benign tumor of the kidney, and as such the cause is not known. They are usually solitary and sporadic. They are also found with a rare hereditary disease, tuberous sclerosis, in which case they are usually more numerous tumors in the affected individual. They can be found in lymphangioleiomyomatosis, a very rare lung condition found only in women.
What's Scleroderma?
Scleroderma is a chronic autoimmune disease characterized by a hardening or sclerosis in the skin or other organs. The localized type of the disease, known as "morphea", while disabling, tends not to be fatal. The systemic type or systemic sclerosis, the generalized type of the disease, can be fatal, as a result of heart, kidney, lung or intestinal damage. It is currently not fully understood what exactly causes this disease, although there are various theories.
Tuberous sclerosis?
DefinitionTuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain.Alternative NamesAdenoma sebaceumCauses, incidence, and risk factorsTuberous sclerosis is inherited. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for the condition.Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations, so there usually is no family history of tuberous sclerosis.This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system(brain and spinal cord) are involved.There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.SymptomsSkin symptoms include:Cafe-au-laitspotsRed patches on the face containing many blood vessels (adenoma sebaceum)Raised patches of skin with an orange-peel texture (shagreen spots), often on the backWhite areas of skin that look like an ash leaf (ash leaf spots)Brain symptoms include:Developmental delaysMental retardationSeizuresOther symptoms:Heart tumors (rhabdomyoma)Kidney tumorsPitted dental enamelRough growths under or around the fingernails and toenailsRubbery noncancerous tumors on or around the tongueThe symptoms of tuberous sclerosis vary from person to person. Some people have normal intelligence and no seizures. Others have severe retardation, serious tumors, or difficult to control seizures.Signs and testsSigns may include:Abnormal heart rhythm (arrhythmia)Calcium deposits in the brainNoncancerous "tubers" in the brainRubbery growths on the tongue or gumsTumor-like growth (hamartoma) on the retina, pale patches in the eyeTumorsTests may include:CT scan of the headMRI of the headUltrasound of the kidneyUltraviolet light examination of the skinDNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.Regular ultrasound checks of the kidneys are an important screening tool to make sure there is no tumor growth.TreatmentThere is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.Medications are needed to control seizures, which is often difficult. Depending on the severity of the mental retardation, the child may need special education.Small growths (adenoma sebaceum) on the face may be removed by laser treatment. These growths tend to come back, and repeat treatments will be necessary.Rhabdomyomas commonly disappear after puberty, so surgery is usually not necessary.Support GroupsFor additional information and resources, contact the Tuberous Sclerosis Alliance at 800-225-6872.Expectations (prognosis)Children with mild tuberous sclerosis usually do well. However, children with severe retardation or uncontrollable seizures usually do poorly. Occasionally when a severely affected child is born, the parents are examined, and one of them is found to have had a mild case of tuberous sclerosis that was not diagnosed.The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.ComplicationsBrain tumors (astrocytoma)Heart tumors (rhabdomyoma)Severe mental retardationUncontrollable seizuresCalling your health care providerCall your health care provider if:Either side of your family has a history of tuberous sclerosisYou notice symptoms of tuberous sclerosis in your childCall a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.PreventionGenetic counseling is recommended for prospective parents with a family history of tuberous sclerosis. Prenatal diagnosis is available for families with a known DNA mutation. However, tuberous sclerosis often appears as a new mutation, and these cases are not preventable.ReferencesHaslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.
Is kidney disease associated with rare blood types?
Kidney disease is not related to rare blood type at all. However, eating certain foods or consuming certain beverages may impact your health and cause kidney problems.
What is glomerular kidney disease?
Glomerular kidney disease-- Disease of the kidney that affects the glomeruli, the part of the kidney that filters certain substances out of the blood.
Is there any difference between kidney disease and kidney failure?
Kidney disease can lead to kidney failure.
What does the medical terminology combining form -sclerosis mean?
The medical terminology combining form -sclerosis means abnormal hardening of tissue or parts of the body. Examples include atherosclerosis in blood vessels and multiple sclerosis in the nervous system.
What is tubular kidney disease?
Tubular kidney disease-- Disease of the kidney that affect the tubules, the part of the kidney that allows certain substances to be reabsorbed back into the blood
What is the most common disease of the kidneys?
Diabetes is one of the main diseases that affects the kidneys the most. High blood pressure can also damage the kidneys and then there are specific diseases that only target the kidneys as well. Hyponatremia, Hypernatremia, Hypolsalemin, Hyperlsalimia, Hematuria, Proteinuria, chronic kidney disease., UTI, kidney cancer, kidney stones, nephritis, renal failure, glomerulonephritis, and others.
What is focal nephritis?
Inflammation, usually related to disease or autoimmune disorders, that is confined to a specific area of the kidney.
