Causes, Symptoms And Treatment Of Tuberous Sclerosis - Health Article

Causes, Symptoms And Treatment Of Tuberous Sclerosis

What is tuberous sclerosis?


Tuberous sclerosis (TS), also known as the Bourneville disease, is a hereditary disease, which may be associated with abnormalities of the skin, the brains, kidneys, and other organs. The condition was formerly included in the fakomatosen. In the Netherlands, there are approximately 2,000 patients with tuberous sclerosis.

Tuberous sclerosis causes

There are two genes that can cause the disease: TSC1 and TSC2 on chromosome 9 to chromosome 16. In most patients, the first (usually the only) in their family, among them is the change (mutation) in the DNA than for the first time formed ("de novo"). The inheritance is autosomal dominant, which means that on average half the children of a parent with tuberous sclerosis, the disease will have.

 which may be associated with abnormalities of the skin Causes, Symptoms And Treatment Of Tuberous Sclerosis


Tuberous sclerosis symptoms


The severity of the disease can vary amazing. Some patients have few or no symptoms, others are severely disabled since childhood.

Brains
  • Epilepsy
Epilepsy often occurs early on, namely the baby as Blitz-Nick-Salaam Cramps.
  • Intellectual disabilities, often with autism.
  • Small tumors in the brains (ependymomas / astrocytomas and tubers), usually benign, depending on the localization.
Skin Conditions
  • Bright spots where pigment is missing: one sees this with a baby with infantile spasms, then the diagnosis is certain.
  • Butterfly-like, blob-like reddening of the face, "adenoma sebaceum" only appear later. This skin disorder seems remotely something to see on acne, but at a closer look, there are no "pimples" but bumps.
  • Stalked benign tumor particles that grow along the nails.

Kidney disorders

Around 55-75 percent of patients have angiomyolipomas; self benign tumors in the kidney, which however soon bleeding and can be very great. One can, because the tumor so huge bleed easily, do not puncture and not to operate. The only safe treatment "embolization"; the closing of the blood vessel through which the tumor wegschrompelt.

Remainder
  • Eye disorders
  • Lymphangioleiomyomatosis (LAM), is accompanied by alteration of the structure of the lung tissue (honeycomb-lung) and the formation of cysts. Almost always the female patients who exhibit these symptoms; it affects 26 to 39 percent of them.
  • Tumors in the heart (rabdomyoom)), in such a 50-70 percent of children with TS. Only in rare cases this gives rise to problems.

Diagnosis

The symptoms of the disease are divided into major (eg of swelling in the brains; angiomylolipomen in the kidneys, the typical skin rash) and minor (eg pits in the tooth enamel). In the presence of two major or one major to be made with two minor criteria the diagnosis. The brains and kidneys can be imaged with MRI, CT, Ultrasound, X-rays, EEG or Wood's lamp examination Today, the diagnosis can be confirmed by DNA analysis.

Tuberous sclerosis treatment


Treatment is mainly symptom control: treatment of epilepsy for example. In children with a severe form of epilepsy can be effectively vigabatrin. Many patients are in Utrecht or at the ENCORE Expertise in Rotterdam under the control of the special clinic. Regularly made them a scan so that action can be taken in good time as a brain tumor risk is going to deliver on, or kidney tumors are too large. In the latter case, one will place a tube in the feeding vessel of the kidney tumor and thus a substance in syringes that closes the vessel via the groin.

A new non-surgical treatment option presents itself. The TS-associated tumors exhibit increased activity of the so-called mTOR pathway. Sirolimus, to be taken orally in a drug, (also known under the names rapamycin and Rapamune®) engages on here, and normalizes the activity of the disrupted mTOR pathway. In a small number of studies have demonstrated the effectiveness sirolimus in TS-associated tumors: Regression (atrophy) of tumors in the brains (astrocytomas), kidneys (angiomylolipomen), and in the lungs (lymphangioleiomyomatosis). Particularly with prenatally diagnosed tuberous sclerosis offers this interesting prospects; one might start by early treatment with sirolimus, the tumor growth at the earliest possible stage, to stagnate. However, further research will be necessary before sirolimus on a large scale can be used for the treatment of tuberous sclerosis.

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