Mutation Status | Patients | Intra-Leukocyte Cystine Value at Diagnosis (nmol1/2cystine/mg protein) | Presentation Form of Cystinosis |
57-kb deletion/57-kb deletion | (N = 5) | [2.8 - 8.0] | Infantile Nephropathic form |
57-kb deletion/Q128X | (N = 2) | [1.5 and 5.1] | Infantile Nephropathic form |
57-kb deletion/p.T7FfsX7 | (N = 1) | [7.3] | Infantile Nephropathic form |
p.S139F/p.S139F | (N = 1) | [1.7] | Juvenile (late) Nephropathic form |
57-kb deletion/S139F | (N = 2) | [2.2 and 3.7] | Juvenile Nephropathic form |