title: [Hereditary deficiency of C1 esterase inhibitor. Lupus and glomerulonephritis].
abstract: Congenital deficit of the inhibitor of C1 esterase (C1 INH) usually presents by oedema of the lower limbs, abdomen and glottis (sometimes lethal), which explains its clinical denomination of angioneurotic oedema. The association of this condition with disseminated lupus erythematosis has been reported in 4 cases and with discoid lupus in 4 cases. Antinuclear factors were found in all these cases but there were only two documented cases of nephropathy (one diffuse proliferative glomerulonephritis and one local glomerulonephritis). The association of a deficit of C1 INH and membrano-proliferative glomerulonephritis has only been reported in 2 cases (one lobular glomerulonephritis and one glomerulonephritis with dense basal membrane deposits). Our case had C1 INH deficiency and proliferative lupic glomerulonephritis in the absence of other clinical and immunological signs of DLE. Nephropathy was not looked for in 9 cases of association of C1 INH deficiency and C3-shearing autoantibody (C3 NEF). A common genetic mechanism for these associations seems very improbable. The aptitude of patients with C1 INH deficiency to synthesise autoantibodies under the influence of infections factors, for example, could explain the higher incidence of lupus and glomerulopathies in these patients.
mesh_terms: D000293:Adolescent; D000328:Adult; D000799:Angioedema / Q000150:complications / Q000235:genetics*; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency*; D005260:Female; D005921:Glomerulonephritis / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D003174:Complement C1 Inactivator Proteins
vernacular_title: Déficit héréditaire en inhibiteur de la C1 estérase. Lupus et glomérulonéphrite.