The following is a summary of “Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?,” published in the December 2023 issue of Nephrology by Günay et al.

Genetic testing, though not mandatory for diagnosis, aids treatment planning and prognosis prediction in C3 glomerulopathy (C3G), a complement-mediated disease.

Researchers conducted a retrospective study to compare clinical phenotypes, kidney survival, and response to mycophenolate mofetil (MMF) treatment in pediatric C3G patients with and without complement-related gene mutations.

They included 60 pediatric C3G patients, categorizing them into two groups according to complement-related gene mutations. Comparing demographic and clinical-pathological findings, treatment modalities, and outcome data, Kaplan–Meier analysis for kidney survival was conducted.

The results showed that of 60 patients, 17 had mutations, with the most common mutation in the CFH gene (47%). The mean age at diagnosis was higher in the mutation group (12.9 ± 3.6 vs. 11.2 ± 4.1 years, P=0.039). The nephritic syndrome was most frequent in patients without mutation (44.2%), while the mutation group tended to have asymptomatic urinary abnormalities (47.1%, P=0.043). Serum parameters and histopathological characteristics were similar, except for more common hypoalbuminemia in patients without mutation. Over a 45-month follow-up, 10 patients progressed to chronic kidney disease stage 5 (CKD5), with 4 having a genetic mutation. The time to develop CKD5 was longer in the mutation group but not significant. MMF treatment had no effect on progression in either group.

They concluded that a large pediatric C3G study found no significant differences in MMF treatment response or kidney survival between patients with and without complement-related gene mutations.

Source: link.springer.com/article/10.1007/s00467-023-06231-2