Abstract
Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The histopathologic lesions of aHUS include thrombotic microangiopathy involving the glomerular capillaries and thrombosis involving arterioles or interlobar arteries. Extra-renal manifestations occur in up to 20% of patients. The majority of aHUS is caused by complement system defects impairing ordinary regulatory mechanisms. Activating events therefore lead to unbridled, ongoing complement activity producing widespread endothelial injury. Pathologic mutations include those resulting in loss-of-function in a complement regulatory gene (CFH, CFI, CD46 or THBD) or gain-of-function in an effector gene (CFB or C3). Treatment with the late complement inhibitor, eculizumab – a monoclonal antibody directed against C5 – is effective.
Highlights
THBD) or gain-of-function in an effector m gene (CFB or C3)
Treatment with the late complement inhibitor, eculizumab – a monm oclonal antibody directed against C5 – is o effective. on c Introduction N Hemolytic uremic syndrome (HUS) is CFB or C3.6 Together, these account for 60% to 70% of atypical HUS cases.[7]
The cases occurring in the post-transplant setgiopathy (TMA) has become equated presence of diarrhea, does not ting and often calcineurin-inhibitor related), with atypical HUS, other etiolo- exclude the diagnosis of atypical HUS
Summary
The onset of atypical HUS is either idiopathic or secondary to potential triggers such as upper respiratory tract infections, fevers, pregnancy,[10] drugs such as quinine and non E coli diarrheal illnesses.[11]. The clinical findings of atypical HUS defined by the simultaneous occurrence of seizures, or focal neurologic deficits in 8% requires consideration of other diseasemicroangiopathic hemolytic anemia of adults, 16% of children)[12] and gastroin- mimics. Such disorders include idiopathic (MAHA), thrombocytopenia, and acute kid- testinal (especially prodromic diarrhea in up TTP (which is confirmed by the finding of ney injury.[1] The most common cause of to 28%)[13] systems. Atypical hemolytic uremic syndrome: genetic contributions, clinical presentations and risk of discontinuation of eculizumab
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