Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome

Giglio S;Provenzano A;Mazzinghi B;Becherucci F;Giunti L;Sansavini G;Ravaglia F;Roperto Rm;Farsetti S;Benetti E;Rotondi M;Murer;Eazzeri E;Lasagni L;Materassi M;Romagnani P

2014-01-01

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Abstract

We identified a genetic cause in 32.3% of cases that were steroid-resistant, but in none of the 38 steroid-sensitive children (chisquared test, p<0.001). Genetic alterations also predicted lack of response to immunosuppressive agents in steroid-resistant children (0%inmutated vs. 57.9% in not mutated patients; chi-squared test, p<0.05), while clinical features, age at onset and even pathologic findings were similar in the two groups. These results suggest that heterogeneous genetic alterations are present in about one third of children affected by sporadic forms of steroid-resistant nephrotic syndrome and predict resistance to immunosuppressive treatments. In these patients, a comprehensive screening using such an array is required for genetic counseling to the family and may help clinical decision making, in a fast and cost-efficient manner.