Certain gene mutations affect individuals' risk of developing a serious kidney condition, as well as their prognosis after being diagnosed with the disease, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). The findings may help in diagnosing and treating patients with the disease, and in determining the risks that patients' relatives face for developing it as well.
Several abnormalities in genes that encode complement proteins—molecules of the immune system that mediate the first defense against pathogens—are thought to contribute to atypical hemolytic uremic syndrome (aHUS), a rare kidney condition that results from blood vessel injury, thrombosis, and the destruction of red blood cells. The syndrome causes kidney failure in about half of cases. To see which genes or combinations of genes are important, Marina Noris, PhD, Elena Bresin, MD, Giuseppe Remuzzi, MD (Mario Negri Institute for Pharmacological Research, in Italy) and their colleagues in the European Working Party on Complement Genetics in Renal Diseases screened nearly 800 patients with aHUS and their relatives.