Table 1.
Patient characteristics
| HNF1B deletion | HNF1B variant | Total | p-value | ||
|---|---|---|---|---|---|
| Demographic features | Gender | ||||
| Female | 44 (37%) | 28 (46%) | 72 (40%) | 0.26 | |
| Male | 75 (63%) | 33 (54%) | 108 (60%) | ||
| Mean age (years) | |||||
| At the time of the last follow-up visit | 9.4 (4.7) | 9.9 (5.5) | 9.6 (5) | 0.44 | |
| Ultrasonographic data | |||||
| Bilateral anomalies | 114 (96%) | 58 (95%) | 172 (96%) | 1.0 | |
| Multicystic dysplasia | 31 (13%) | 24 (21%) | 55 (16%) | 0.12 | |
| Cysts | 117 (49%) | 53 (43%) | 170 (47%) | 0.31 | |
| Hyperechogenic kidney | 164 (68%) | 81 (67%) | 245 (68%) | 0.63 | |
| Kidney hypoplasia | 26 (11%) | 25 (20%) | 51 (14%) | 0.17 | |
| Renal agenesis | 3 (2%) | 2 (2%) | 5 (1%) | 1.0 | |
| Urinary tract dilation | 13 (5%) | 0 | 13 (4%) | 0.01 | |
| Other | 4 (2%) | 0 | 4 (1%) | 0.30 | |
The percentage of ultrasound features is based on the number of renal units: 360 for the 180 patients analysed, except data missing for three patients (two with a deletion and one with a disease-associated variant). “Cysts” includes cortical, medullary macro, and microcysts. “Urinary tract dilation” includes pyelectasis, dilation secondary to vesicoureteral reflux, hydronephrosis, ureteropelvic junction obstruction, posterior urethral valves. “Other” includes increased kidney size, kidney with poor corticomedullary differentiation