relapsing fever RELATED TO genetic abnormality genetic abnormality
What does this mean? means that a gene has been modified by a step called "mutation". This mutation changes the function of the gene begins to give the wrong information to the body, thus causing the disease. In each cell, there are two copies of each gene. One copy is inherited from the mother, the other copy from father. The mutation can be: a) present in the parents. The legacy is 2 different types:-recessive, meaning that both parents carry a mutation, only one of their genes. Are not sick because the disease arises only when both genes are affected. The risk for a child who inherits the mutation from each parent is 1 4.-dominant, meaning that a mutation is sufficient to cause the disease arises. In that case, one parent is sick, and the risk of transmission to the child is 1 in 2 b) absent in genitori.l 'incident occurred when the child's conception. It's called "de novo mutation. Theoretically there is no risk for another child, but the risk of contracting the disease is the same as the dominant mutation, or a second child gets sick.
hereditary recurrent fever Familial Mediterranean Fever Fever Irish family or TNF receptor-associated periodic syndrome (TRAPS) TRAPS: TNFR (Tumor Necrosis Factor Receptor 1)-associated periodic syndromes.
What is this? TRAPS are mainly inherited syndromes with recurrent fever that usually last 2-3 weeks typically accompanied by gastrointestinal disorders, painful red skin rashes, muscle pain and periorbital swelling. This disease was recognized only recentemente.Il course of TRAPS is rather benign and self limited, however 14% of patients develop severe kidney disease called amyloidosis secondary (see main symptoms).
How common is it? TRAPS is considered a rare disease with less than a hundred cases recognized, its true prevalence remains unknown. It affects both sexes equally el'esordio seems to be during late childhood or adulthood. The first cases were reported in patients from Irish-Scottish, the disease has been identified in other populations: French, Italian, Sephardic and Ashkenazi Jews, Arabs, Berbers and Armenians Magreb.Le seasons and climate have not been shown to influence the course of the disease, which evolves with unpredictable consequences for all life.
What are the causes of the disease? TRAPS is due to hereditary deficiency of a protein (called Tumor Necrosis Factor Receptor F) that increases the inflammatory response of the patient. The inflammatory molecule called tumor necrosis factor TNF F reacts in an unusual way because it is not completely controlled by the receptor TNFR that normally would combine the TNF reducing its effect infiammatorio.Questo defect explains the patient's illness: fever, chills, pain. Infection, trauma or psychological stress can trigger an attack. The relationship between amidoilosi and there probably TRAPS genetic factors for chronic inflammation that have in common.
is inherited? TRAPS and of inheritance, this means that in the same family, in every generation, there may be more of a case. The gradual reduction of marriages in the same family, decreased the possibility of cases multipli.Il gene responsible for TRAPS has been identified with chromosome 12 (12 region p13) The mutation of this gene leads to an abnormal TNF receptor, which does not work appropriately during the inflammatory response. Today, 33 different mutations were identified in the gene.
Why has my child got this disease? It can be prevented? The child has inherited the disease from one of the parents who are carriers of the TNF receptor gene mutations, unless a mutation has occurred de novo. The person carries the mutation may (or may not) exhibit the clinical symptoms of TRAPS. The disease can not yet be prevented.
Is it contagious? TRAPS is not an infectious disease, this means that only those with the modified gene develop the disease.
What are the main symptoms? The main symptoms are recurrent attacks of fever usually last 2-3 weeks, associated with chills and intense muscle pain in trunk and upper limbs. The rash is typically red and painful as an inflammation of the skin and dot muscolare.La most patients experience a sensation of intense muscle pain, like a cramp at the beginning of attacks gradually increases in intensity and begins to migrate to other parts of the limbs (distal migration), followed by the appearance of erythema. Common symptoms are a diffuse abdominal pain with nausea and vomiting. Inflammation of the conjunctiva and / or periorbital swelling is quite characteristic of TRAPS, although these symptoms can be observed in other diseases such as allergy. In addition to these signs typical TRAPS may present differently with shorter or longer attacks. It can also be chest pain due to inflammation of the pleura and / or pericardio.L 'amyloidosis is the most severe complication of TRAPS and occurs in only a few cases. Is manifested by the appearance of a large amount of protein in the urine leading to kidney damage.
The disease is the same in every child? TRAPS varies from one patient to another especially in terms of duration of attacks and duration of periods without symptoms. The combination of the main symptoms can vary. Genetic factors may partly explain these differences.
How is it diagnosed? A medical expert suspected TRAPS on the basis of clinical symptoms and history homely blood tests are useful to detect the level of inflammation during the attacks. The diagnosis is only achieved through the genetic analysis provides evidence of mutazione.Tra other diseases that have recurrent fevers, there is familial Mediterranean fever and syndrome iperIgD.
What are the treatments? To date, no treatment exists to prevent or cure the disease. Non-specific anti-inflammatory agents help reduce the intensity of symptoms during the attacks. High dose steroids are often effective but continued use can lead to serious side effects. The specific blocking of TNF treatment is only effective if given at the beginning of an attack.
How long should the treatment take? The duration of treatment is limited to the acute symptoms because no drug is effective for the prevention of fever attacks.
How long is the disease? TRAPS occurred at irregular intervals and repeated throughout his life.
What is the long-term TRAPS? Only a minority of patients have a worse prognosis, there is a high risk of secondary amyloidosis. This risk is difficult to determine because it depends on genetic and environmental factors. Amyloidosis is a serious complication, often leading to damage renale.Ad today no one knows if this complication can be avoided.
You can recover completely? currently not known but it is not excluded. In fact, the structure of the genetic modification of the TNF receptor does not lead to systematic functional defect. In addition, any failure to contact a potential causative agent (unfortunately still unknown) may lead to remission.
