Genetic studies into inherited and sporadic hemolytic uremic syndrome

摘要: Genetic studies into inherited and sporadic hemolytic uremic syndrome. Hemolytic syndrome (HUS) in adults carries a high morbidity mortality, its cause remains unknown despite many theories. Although familial HUS is rare, it affords unique opportunity to elucidate underlying mechanisms that may have relevance acquired HUS. We undertaken genetic linkage study based on candidate gene approach. A common area bounded by the markers D1S212 D1S306, distance of 26 cM located at 1q32 segregated with disease (Z max 3.94). demonstrate for factor H lies within region. Subsequent mutation analysis has revealed two mutations patients In an individual sporadic/relapsing form we found comprising deletion, subsequent frame shift premature stop codon leading half normal levels serum H. one three families there point exon 20 causing arginine glycine change, which likely alter structure hence function protein. Factor major plasma protein plays critical regulatory role alternative pathway complement activation. light these findings previous reports deficiency, postulate abnormalities be involved etiology