New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome

In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.

Source: CKJ: Clinical Kidney Journal - November 20, 2015 Category: Urology & Nephrology Authors: Lopes, D., Gomes, A. M., Cunha, C., Pinto, C. S., Fidalgo, T., Fernandes, J. C. Tags: THROMBOTIC MICROANGIOPATHY Source Type: research