Table 1:
Genetic variants, results from kidney ultrasonography, and kidney function parameters from patients III-1 and III-2 as well as their children IV-1 and IV-2.
| III-1 (father) | III-2 (mother) | IV-1 (son) | IV-2 (daughter) | |
|---|---|---|---|---|
| Genetic variants |
EYA1 c.1698+1G>A; CYP51A1 wt |
EYA1 wt; CYP51A1 c.770+1G>A |
EYA1 c.1698+1G>A; CYP51A1 c.770+1G>A |
EYA1 c.1698+1G>A; CYP51A1 c.770+1G>A |
| Age (years) | 35 | 31 | 2 | 6 |
| Kidney ultrasound; kidney length (mm) | normal | normal; R 106 mm, L 113 | bilateral dysplasia; R 26, L 36 | bilateral hypotrophic dysplasia; R 45, L 50 |
| Hemoglobin (mmol/l) | 8.9 | 8.1 | 7.3 | 7.6 |
| Serum creatinine (mg/dl) | 1.1 | 0.6 | 3.98 | 1.0 |
| Cystatin C (mg/l) | 5.38 | 1.75 | ||
| eGFR (CKD-EPI/Schwartz) (ml/min/1.73 m2) | 92 | 120 | 11 | 62.4 |
| Blood urea nitrogen (BUN) (mmol/l) | 5.0 | 3.6 | 27.3 | 9.8 |
| Proteinuria (protein to creatinine ratio; mg/g) | no | no | 2900 | 532 |
| Albuminuria (albumin to creatinine ratio; mg/g) | no | no | 2300 | 233 |
Reference ranges: hemoglobin 7.5–9.9 mmol/l; serum creatinine 0.67–1.2 mg/dl; cystatin C 0.5–0.95 mg/l; eGFR >90 ml/min/1.73 m2, blood urea nitrogen <8.3 mmol/l, proteinuria <70 mg/g, albuminuria <20 mg/g. R, right; L, left; wt, wild-type.