Table 1.
Clinical and laboratory features at the initial presentation with DGKE nephropathy
| Clinical feature | Number of patients |
|---|---|
| Age (mo) (n = 15) | Mean 17; median 9; range 3–96 |
| Sex (n = 16) | |
| Male | 5 |
| Female | 11 |
| Prodrome (n = 14) | |
| Vomiting | 2 |
| Diarrhea | 4 |
| Triggering event (n = 14) | |
| None identified | 11 |
| Infection | 3 |
| Clinical features (n = 14) | |
| Proteinuria | 14 |
| Nephrotic range proteinuria | 10 |
| Hematuria | 14 |
| Hypertensiona | 12 |
| Extrarenal manifestations (n = 13) | |
| None | 9 |
| Neurological | 4 |
| Medical history (n = 14) | |
| Developmental delay | 3 |
| Learning difficulties | 4 |
| Autistic spectrum disorder | 2 |
| Laboratory feature | Mean | Range |
|---|---|---|
| Hemoglobin level (g/l) (n = 13) | 76 | 49–111 |
| Platelet count (×109) (n = 13) | 120 | 15–315 |
| Creatinine level (μmol/l) (n = 13) Albumin level (g/l) (n = 11) |
311 23 |
54–1921 15–32 |
| Lactate dehydrogenase level (U/l) (n = 10) | 2651 | 652–5909 |
| C3 level (0.68–1.38) (g/l) (n = 14) | 1.04 | 0.50–1.64 |
| C4 level (0.18–0.6) (g/l) (n = 13) | 0.28 | 0.07–0.65 |
| Urine ACR (if quantified) (mg/mmol) (n = 8) | 1069 | 200–3447 |
ACR, albumin/creatinine ratio; DGKE, diacylglycerol kinase epsilon.
a
Hypertension was defined according to the international guidelines.