Table 1.

Clinical presentation and outcome of patientsa

FamilyPatientGenderAge at Onset of Symptoms (yr)Age at Diagnosis (yr)Proximal TubulopathySCr at Diagnosis (μmol/L)ProteinuriaSCr at Last Follow-up (μmol/L)Granulocyte Cystine Content (nmol half-cystine/mg protein)
1aF710+63+160 (16 yr)0.76
2aF513+88+104 (15 yr)
bF416+88+202 (19 yr)
3aM77+N+168 (12 yr)0.94
4aF+Unknown+ESRD (12 yr), KT (17 yr)4.80
5aM77+73+400 (21 yr)1.47
6aF46+Unknown+450 (35 yr)0.91 (1978), 1.96 (1988)
7aM1414+Unknown+240 (48 yr)Increasedb
bM1335Unknown+ESRD (27 yr), KT (29 yr)1.10
8aF1212Unknown+69 (29 yr)2.50
bMUnknown+ESRD (21 yr)Increasedb
9aF3050N91 (56 yr)2.00
bM1926N+ESRD (28 yr), KT (29 yr)1.02
cF2324N+N (35 yr)1.08
  • a KT, kidney transplantation; N, normal; SCr, serum creatinine concentration.

  • b “Increased” according to medical charts; no values were transmitted to us. However family history, clinical presentation, and genetic studies were typical.