Article
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jun 2011
Athanasiou Yiannis, Voskarides Konstantinos, Gale Daniel P, Damianou Loukas, Patsias Charalambos, Zavros Michalis, Maxwell Patrick H, Cook H Terence, Demosthenous Panayiota, Hadjisavvas Andreas, Kyriacou Kyriacos, Zouvani Ioanna, Pierides Alkis, Deltas Constantinos
Abstract excerpt
BACKGROUND AND OBJECTIVES: Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 deposits without immunoglobulins. Gale et al. (12) reported on 26 patients with the first familial, hematuric glomerulopathy caused by a founder mutation in the CFHR5 gene in patients of Cypriot...
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