Dense deposit disease is a rare congenital disorder that is associated with complement dysfunction and often results in end stage renal disease within 10 years of the initial diagnosis. A small percentage of dense deposit disease is associated with mutations in the genes encoding factor H or C3 and autoantibody production.
In this issue of the Journal of Clinical Investigation , Peter Zipfel and colleagues at the Leibniz Institute for Natural Products Research and Infection Biology, evaluated an index family that had 2 reported cases of dense deposit disease. The authors identified a chromosomal deletion in the complement factor H–related (CFHR) gene cluster that resulted in production of a hybrid CFHR2/CFRH5, which stabilized C3 convertase. Treatment with soluble C1 restored C3 convertase decay and may be a promising treatment for patients with a similar refractory form of dense despite disease.
TITLE: Complement factor H–related hybrid protein deregulates complement in dense deposit disease
AUTHOR CONTACT: Peter F Zipfel
Leibniz Institute for Natural Product Research and Infection Biology, Jena, , DEU
Phone: 49 3641 5321300; Fax: 49 3641 5320807; E-mail: peter.zipfel@hki-jena.de
View this article at: http://www.jci.org/articles/view/71866?key=83adcf2d94cecbc2b962
Journal of Clinical Investigation