Table 1.

Clinical characteristics of patients with DGKE mutations

CharacteristicFamily 1Family 2
Patient 452Patient 1200Patient II-1Patient II-2Patient II-4
OnsetLast Follow-UpOnsetLast Follow-UpOnsetLast Follow-UpOnsetLast Follow-UpOnsetLast Follow-Up
Age (y)0.8130.4100.75130.6100.44
SCr (mg/dl)4.170.580.70.480.70.687.30.455.30.29
Platelet count (×109/L)63339963108534122
Hemoglobin (g/dl)10.715.210.914.19.888.3
LDH (IU/L)4000908339610,181
Total bilirubin (mg/dl)1.151.4
C3 (mg/dl)7014781151Normal
C4 (mg/dl)20332128Normal
Proteinuria (g/24 h)0.410.570.570.21+++a,b ++a +++a,b +a
Prot/Creat ratio1.530.44
Hematuria+aNegative+aNegative+++a,b +++a,b +++a,b Traces
  • Normal values are as follows: serum creatinine: children <1–5 years, 0.3–0.5 mg/dl; children 5–10 years, 0.5–0.8 mg/dl, children >10 years, 0.5–1.2 mg/dl. Platelet count: 150–400 ×109/L. Hemoglobin: children 5 months to 1 year, 10.8–12.5 g/dl; children 1–5 years, 11.7–13.7 g/dl; children 5–10 years, 12–14.4 g/dl; female >10 years, 12–16 g/dl; male >10 years 14–18 g/dl. LDH: children <1–5 years, 125–206 IU/L; children 5–10 years, 104–201 IU/L; children 10–15 years, 90–199 IU/L. C3: 90–180 mg/dl. C4: 10–40 mg/dl. Proteinuria in children < 0.2 mg/mg of protein/creatinine ratio in spot urine or < 0.2 g/24 h proteinuria or negative dipstick. Nephrotic range proteinuria is defined as protein/creatinine ratio >2 mg/mg or proteinuria >3.5 g/24 h. SCr, serum creatinine; LDH, lactate dehydrogenase; C3, serum complement C3 levels; C4, serum complement C4 levels; Prot, proteinuria; Creat, creatinine; +, mild level; ++, moderate level; +++, severe level.

  • a Dipstick was used for this evaluation.

  • b Strongly positive result.