Our research has allowed us to publish international guidelines and a National Institute for Health and Care Excellence (NICE) evidence summary on the treatment of C3 glomerulopathy. Furthermore, Imperial BRC funding has enabled us to characterise the genetic basis of complement-mediated kidney disease e.g. complement factor H related protein 5 (CFHR5) nephropathy and familial C3 glomerulopathy.
CFHR5 nephropathy is a recently recognised kidney disease in which a heterozygous mutation in the CFHR5 gene is associated with autosomal dominant inheritance of glomerulonephritis and kidney failure. C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine, blood in the urine, reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body.
Our complement genotyping protocols are now provided by our clinical immunology service and available to physicians caring for patients with complement-mediated kidney disease in the UK. Our expertise in this area, such as complement genetics, mechanisms of kidney injury and pathology, has enabled us to perform the first use of complement inhibition in refractory systemic lupus erythematosus (SLE). We also provide a clinical service for patients with complement disorders.