Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees
Y Athanasiou, K Voskarides, DP Gale… - Clinical Journal of the …, 2011 - journals.lww.com
Results Eighty-two patients (90%) exhibited microscopic hematuria; 51 (62%), exhibited only
microscopic hematuria, whereas the remaining 31 additionally had proteinuria (38%); 28
proteinuric patients developed chronic renal failure (CRF). Among carriers of CFHR5
mutation aged> 50 years, 80% of the men and 21% of the women developed CRF; 18
developed ESRD (14 men [78%], 4 women [22%]). Conclusions The diagnosis of CFHR5-
related, isolated C3 glomerulopathy was established in 2009 using newly described …
microscopic hematuria, whereas the remaining 31 additionally had proteinuria (38%); 28
proteinuric patients developed chronic renal failure (CRF). Among carriers of CFHR5
mutation aged> 50 years, 80% of the men and 21% of the women developed CRF; 18
developed ESRD (14 men [78%], 4 women [22%]). Conclusions The diagnosis of CFHR5-
related, isolated C3 glomerulopathy was established in 2009 using newly described …