What is dyskeratosis Congenity?
dyskeratosis Congenite, also known as DKC or DC, is a rare genetic disorder that causes bone marrow failure. Individuals with this congenital disorder often exhibit unusual skin conditions that indicate the disease, although in some cases the first indication of DKC is bone marrow failure. The diagnosis is confirmed by genetic testing. Treatment of dyskeratosis Congenite dates from medicines to bone marrow transplantation.
This condition is extremely rare and occurs in about one of a million individuals. Although there is no connection with race or ethnicity, more than 75% of cases are men. Mutation occurs on multiple genes and scientists continue to discover. There seems to be three primary genetic bonds.
Zinsser-Cole-Engaman syndrome, also known as an X-ray bond, occurs when the disorder is transferred only to X chromosome and therefore affects only men. Autosomal dominant cases occur when patients receive a defect from Oneelz one of the parents while pAcients with an autosomal recessive form of disease received mutations from both parents. In some cases, there is no genetic link to the disease and mutations are spontaneously.
If parents have this disease or are aware that they are a carrier, genetic testing can be done in the uterus or soon after birth to see if the child has DKC. Otherwise, the diagnosis of the disease usually occurs around the age of 10 and is confirmed by genetic testing. Doctors may notice several skin conditions such as lace rash on the face, neck and chest; Nail abnormalities including ridges, division and weakness; or leukoplakia, which are white spots that occur in the mouth or other mucosal areas. Many of these symptoms are similar to premature aging symptoms.
The most common symptom of dyskeratosis Congenite is bone marrow failure. Bone marrow Creastes wormNot blood cells, white blood cells and plates, and if it fails, these cells are affected. The disorder may proceed as a reduction in any of these cells. If the plates are low, the condition known as thrombocytopenia, then patients will have problems with blood clotting. Reduction of red blood cells that carry oxygen and iron causes anemia; If white blood cells are not produced, then patients lose the ability to fight the disease.
bone marrow failure is common in 90% of DKC cases and is often treated with steroids and other drugs that stimulate marrow production. Bone marrow transplantation is the only way to cure bone marrow failure. Transplantation comes with a high risk of complications and does not affect other problems caused by disease.
Congenite patients often develop other health problems as a result of their conditions. Those with DKC are exposed to higher risk of lung fibrosis, certain cancer -related Sanoplakia, skeletal disorders including scoliosis and gastrointestinalproblems such as cirrhosis. The average life expectancy varies depending on the severity of the disease, but in severe cases the life expectancy of life at the age of 16 is 16. Scientists continue to study this disease and seek treatment options.