Clinical and genetic characterization of Chinese pediatric cystine stone patients

Cystine stone patients are at risk of impaired renal function and the formation of calcium oxalate stones. Most of the gene mutations identified in our patients were first reported in this study. Therefore, cystinuria possibly exhibits genetic and allelic heterogeneity in Chinese pediatric cystine stone patients.Table. Comparison of cystine stone patients and calcium stone patients.Cystine stone patientsCalcium stone patientspSerum Cr, μmol/L66.0 ± 26.945.9 ± 17.90.04Urine oxalate, mg/24 h28.2 ± 13.144.4 ± 21.60.03Urine citrate, mg/24 h302.6 ± 128.9200.3 ± 122.60.05SLC3A1 mutationsK280R, D284Y, Y371Stop, F409L, P436L G458V, M467V, S556RSLC7A9 mutationsC137R, A231T, Q237H, V277M, G319R, E334G, I366N, Y439stop