Laboratory Diagnosis of Congenital Plasminogen Deficiency
摘要
Plasminogen (PLG) is a key protein in the fibrinolytic pathway, contributing to hemostasis, wound healing, cell migration, and tissue formation. Congenital is an exceedingly rare autosomal recessive disease classified into hypoplasminogenemia (type I) and dysplasminogenemia (type II). Type I is characterized by a significant reduction in PLG functional activity and antigen levels, which results in fibrin-rich pseudomembrane formation, primarily affecting the eyes (ligneous conjunctivitis), followed by the gingiva, ears, and respiratory and urogenital tracts. In contrast, type II has normal or mildly decreased PLG antigen levels but significantly reduced functional activity due to abnormal PLG variants. Immunoassays, electrophoresis, chromogenic assays, and nephelometry/turbidimetry are used in laboratories to detect PLG antigens and their activity levels. Molecular techniques, such as polymerase chain reaction, single-strand conformation polymorphism, and sequencing, can also detect PLG gene mutations.