[Early childhood oligoarthritis (antinuclear antibody positive) in alpha 1-antitrypsin deficiency of the PiIZ type].
A 15 months old girl with gonarthritis, and positive antinuclear autoantibodies was found to have a genetically determined alpha 1-antitrypsin deficiency of the rare protease inhibitory (Pi) type IZ. The possible significance of a disturbed equilibrium of cellular inflammation-promoting proteases and extracellular protease inhibition for the pathogenesis of chronic arthritis is discussed using as illustration the presented case.
Heyne
K
K
Klinik für Pädiatrie, Medizinische Universität zu Lübeck.
Weidinger
S
S
D000974:Antibodies, Antinuclear / Q000032:analysis / Q000235:genetics*; D001171:Arthritis, Juvenile / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000974:Antibodies, Antinuclear; D000515:alpha 1-Antitrypsin
Frühkindliche Oligoarthritis (ANA-positiv) bei alpha 1-Antitrypsin-Mangel des Pi-Typs IZ.