Plasminogen deficiency.
Plasminogen (plg) deficiency has been classified as (i) hypoplasminogenemia or 'true' type I plg deficiency, and (ii) dysplasminogenemia, also called type II plg deficiency. Both forms, severe hypoplasminogenemia and dysplasminogenemia, are not causally linked to venous thrombosis. Dysplasminogenemia does not lead to a specific clinical manifestation and probably represents only a polymorphic variation in the general population, mainly in Asian countries. Severe hypoplasminogenemia is associated with compromised extracellular fibrin clearance during wound healing, leading to pseudomembraneous (ligneous) lesions on affected mucous membranes (eye, middle ear, mouth, pharynx, duodenum, upper and lower respiratory tract and female genital tract). Ligneous conjunctivitis is by far the most common clinical manifestation. More than 12% of patients with severe hypoplasminogenemia exhibit congenital occlusive hydrocephalus. In milder cases of ligneous conjunctivitis, topical application of plg-containing eye drops, fresh frozen plasma, heparin, corticosteroids or certain immunosuppressive agents (such as azathioprine) may be more or less effective. Oral treatment with sex hormones was successful in two female patients with ligneous conjunctivitis. In severe cases with possibly life-threatening multi-organ involvement, true therapeutic options are not available at present. The plg-knockout mouse is a useful tool to study the many different properties of plg in a variety of settings, such as wound healing, tissue repair and tissue remodeling, virulence and invasiveness of certain bacteria in the human host, tumor growth and dissemination, as well as arteriosclerosis.
Schuster
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V
Hospital for Children and Adolescents, Medical Faculty of Leipzig University, Liebigstrasse 20a, Leipzig, Germany. volker.schuster@medizin.uni-leipzig.de
Hügle
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B
Tefs
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K
D000595:Amino Acid Sequence; D000818:Animals; D001778:Blood Coagulation Disorders / Q000097:blood / Q000145:classification / Q000150:complications / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D003231:Conjunctivitis / Q000209:etiology*; D004195:Disease Models, Animal; D005341:Fibrinolysin / Q000378:metabolism; D005342:Fibrinolysis; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D010958:Plasminogen / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D011487:Protein Conformation; D018570:Risk Assessment; D012307:Risk Factors; D020246:Venous Thrombosis / Q000209:etiology*
D010958:Plasminogen; D005341:Fibrinolysin