Chan, Samuel, Mallett, Andrew J., Patel, Chirag, Francis, Ross S., Johnson, David W., Mudge, David W., and Isbel, Nicole M. (2017) Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to aCD46mutation in the setting ofSMARCAL1-mediated inherited kidney disease. Nephrology, 22 (S1). pp. 11-14.

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Abstract

Disorders in the regulation of the alternate complement pathway often resultin complement-mediated damage to the microvascular endothelium and canbe associated with both glomerulonephritis and atypical haemolytic uraemicsyndrome. Inherited defects in complement regulatory genes or autoanti-bodies against complement regulatory proteins are predictive of the severityof the disease and the risk of recurrence post kidney transplantation. Hetero-zygous mutations in CD46, which codes for a transmembrane cofactor glyco-protein membrane cofactor protein, usually have a lower incidence of end-stage kidney disease and decreased risk of recurrent disease post transplant,as wild-type membrane cofactor protein is present in the transplanted kidney.However, some patients with CD46 mutations have a second variant in othercomplement regulatory genes increasing the severity of disease. The followingcase report illustrates the course of a young adult patient with end-stage kidneydisease initially ascribed to seronegative systemic lupus erythematosus, whopresented with biopsy-proven thrombotic microangiopathy following kidneytransplantation. It highlights the complexity associated with disorders of com-plementregulationandtheneed forahighindexofsuspicionandgenetictestingin patients who present with thrombotic microangiopathy post-transplant.

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