The role of @entity2105 activity and complement mutational analysis in differentiating acute XXXX .

@entity9818 @entity1 @entity2105 @entity465 @entity806 @entity1381 @entity1011 @entity4050 @entity8892 @entity2106
UNASSIGNED: Essentials Molecular diagnostics has improved the differentiation of acute @entity9818 ( @entity9818 ). @entity1381 may have features mimicking @entity2106 . We identified novel complement mutations and a high incidence of @entity806 , with favorable long term outcomes. Complement mutation analysis in @entity9818 where the diagnosis is unclear and @entity2105 activity is >10%. SUMMARY: Background Differentiation of acute @entity9818 ( @entity9818 ) at presentation has historically been dependent on clinical parameters. Confirmation of @entity2106 ( @entity2106 ) is increasingly reliant on demonstrating deficient @entity2105 activity. The identification of alternative complement pathway abnormalities in @entity1381 ( @entity1381 ), along with the proven efficacy of terminal complement inhibitors in treatment, has increased the need for rapid differentiation of @entity2106 from @entity1381 . Objectives We describe the clinical phenotype and nature of complement mutations in a cohort of @entity1381 @entity1 referred as acute @entity9818 . @entity1 /methods Fourteen consecutive @entity1381 @entity1 were screened for mutations in C3, @entity806 , @entity4050 , @entity8892 , and CFB, as well as @entity4050 ( @entity4050 ) antibodies. All @entity1381 @entity1 had @entity2105 activity > 10%. Results Of 14 @entity1381 @entity1 , 11 (79%) had platelet counts < 30 * 10(9) /L during the acute phase. Median presenting @entity1011 level was 295  mol L(-1) , while five (36%) of 14 presented with a serum @entity1011 level < 200  mol L(-1) . Alternative complement pathway mutations were detected in 9 (64%) of 14 @entity1 , including @entity806 mutations in five (36%) of 14 @entity1 . @entity1 were identified with novel mutations in CFB and C3 that have not been previously reported. Conclusions We demonstrate that diagnostic differentiation based on platelet count and renal function is insufficient to predict an underlying complement mutation in some @entity1381 cases. Specifically, we demonstrate a high frequency of functionally significant @entity806 mutations which may mimic @entity2106 . @entity2105 activity > 10% in a @entity1 with a @entity9818 should necessitate genetic screening for @entity465 .
