Scientists have discovered a new autoinflammatory disease. This has been reported by the US National Institutes of Health.
The concept of autoinflammatory diseases was introduced relatively recently. This is the name for chronic conditions characterized by unreasonably recurrent episodes of fever with inflammation of the skin, serous membranes and joints. The most widely known manifestation of these diseases is Mediterranean fever.
new disease accepted Although there is no official Russian translation of the diagnosis yet, it has been termed kinase-associated vasculopathy and liver fibrosis (LAVLI). LAVLI was first discovered by genetic testing in a pediatric patient. It turned out that the problem lay in the mutation of the LYN gene, which encodes the LYN kinase protein. Later, the other two children were found to have two more mutations in the same gene. All three patients developed genetic disorders associated with the LYN mutation shortly after birth. Two patients developed liver fibrosis (excessive amount of scar tissue caused by inflammation and recurrent liver damage) during their first year of life. All three patients developed perinatally neutrophilic cutaneous vasculitis – inflammation of their walls – of small vessels.
The authors hope that LYN kinase could be a target for drugs that treat small vessel vasculitis and other inflammatory liver fibrosis.
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Source: Gazeta
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