Dense Deposit Disease [DDD or MPGNII], Atypical Hemolytic Uremic Syndrome (aHUS), and Other Diseases of the Alternative Complement Cascade
Dense Deposit Disease is a renal disease with an orphan-sized market incidence (2-3 people per million per year). It most typically manifests in children between 10 and 15 years of age. From the point of initial diagnosis, roughly 50% of affected children go on to end-stage renal disease within 10 years. Some 80% of patients with DDD have the same CFH ‘risk’ genetic disposition that occurs in AMD patients. Of special note, DDD patients often have macular drusen that are indistinguishable from those that manifest in individuals with AMD.
Atypical hemolytic uremic syndrome is a renal disease with an orphan-sized market incidence (1-3 people per million). The mean age of onset is 4 to 5 years. Mortality rates are roughly 25% with 20% of all patients developing end-stage renal disease. Some 15-30% of cases are linked to one or more single point mutations on the CFH gene resulting in CFH protein insufficiency or compromised CFH protein functionality. The result is over-activation of the alternative complement pathway and damage to healthy tissues in the kidney.
Recent, independent research from leading research centers has suggested a possible association between the CFH ‘risk’ form and several other diseases including coronary artery disease, myocardial infarction, stroke, Alzheimer’s Disease and others. Future research will elucidate the extent and nature of this association.