Kawasaki disease ... (Kawasaki disease) - Gen ITPKC


Kawasaki disease (KD) is an uncommon vasculitis that affects infants and young children. Affected children have prolonged fever several days of dureación, rash and cervical lymphadenopathy. They also develop conjunctivitis and erythema lips, oral mucosa, tongue, palms and soles of the feet. Without treatment, 15 to 25% of people with Kawasaki disease develop coronary aneurysms or other damage to the coronary arteries that can be potentially fatal.

The cause of Kawasaki disease is not well understood. This process is generally considered a consequence of an abnormal activation of the immune system, but triggers this abnormal response are unknown. Because cases of Kawasaki disease tend to cluster geographically and seasonally, it has been suggested that it could be involved in its development an infection. However, it has not identified any infectious agent.

A variation in the ITPKC (inositol trisphosphate 3-kinase-C) gene, located on the long arm of chromosome 19 (19q13.1) has been associated with increased risk of Kawasaki disease. This gene encodes the enzyme synthesis of inositol 1,4,5-trisphosphate 3-kinase C, which helps to limit the activity of T cells of the immune system. T cells identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of cytokines that lead to inflammation and, in excess, causing tissue damage.

The variation is the change of a single nucleotide in intron 1 of the gene ITPKC. It is believed that genetic variation ITPKC can interfere with the body's ability to reduce the activity of T cells, resulting in inflammation that damages the blood vessels and causes the signs and symptoms of Kawasaki disease. It seems likely that other factors, such as changes in other genes also influence the development of this condition.

A predisposition to Kawasaki disease appears to be transmitted from generation to generation in families, but the pattern of inheritance is unknown. Children of parents who have experienced this disease have twice the risk of developing the disease compared to the general population. Children with affected siblings have a risk ten times higher.

Tests in IVAMI: in IVAMI perform detection of mutations associated with Kawasaki disease (KD), by complete PCR amplification of exons ITPKC gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).