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Congenital PLGD is an inherited disorder passed on from generation to generation in which a person is born with two mutated genes, one from each parent. This is commonly referred to as an autosomal recessive pattern of inheritance. It is caused by changes in the gene that gives instructions to make plasminogen (PLG). Many changes in this PLG gene have been identified. The most common one is found in 34% of patients.
While both parents of a child with congenital PLGD carry a copy of the affected gene, they typically do not show signs and symptoms of the disorder. This is why parents are understandably surprised to find out that their child has this rare condition, especially if there is no history of PLGD in their family.
Patients with congenital PLGD may have abnormally low, or almost no, PLG present in the blood. Others may produce some PLG, but a significant portion of it is not active or not performing normally. People with moderate levels of PLG (levels are slightly below normal) may not experience symptoms at all.