Genetics of Atypical Hemolytic Uremic Syndrome (aHUS)

Genetics of atypical hemolytic uremic syndrome (aHUS).

Hemolytic uremic syndrome (HUS) is a rare, life-threatening disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical form of HUS (aHUS), representing 5 to 10% of cases, lacks the association with infection by Shiga toxin producing Escherichia coli strains that characterizes the commonest clinical presentation of HUS. In the majority of ...

Atypical hemolytic uremic syndrome (aHUS): making the diagnosis.

Atypical hemolytic uremic syndrome (aHUS) is a major thrombotic microangiopathy (TMA). A TMA is recognized by the laboratory signs of microangiopathic hemolysis, as indicated by schistocytes, elevated lactate dehydrogenase, low haptoglobin, and low hemoglobin, plus thrombocytopenia and accompanying signs and symptoms of organ system involvement. aHUS results from chronic, uncontrolled activity ...

The Physician’s Guide to Atypical Hemolytic Uremic Syndrome (aHUS)

Title: Atypical hemolytic uremic syndrome (aHUS) –State of the Art 2013 Richard Smith Summary: Atypical Hemolytic uremic syndrome (aHUS) is an ultra-rare renal disease

Purpose of review: Laser microdissection (LMD) and mass spectrometry (MS) is a new technique that consists of dissection of glomeruli, tryptic digestion of dissected material, analysis by mass spectrometry, and generation of a protein profile using different algorithms. The review focuses on the use of this methodology as an ancillary technique in a clinical laboratory for the diagnosis of kidn...

Atypical Hemolytic Uremic Syndrome

Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is r...