Table 1.
Sample demographic table
|
HNF1B intragenic mutation (n = 21) |
17q12 deletion (n = 21) |
Control* (n = 21) |
|
|---|---|---|---|
| Median age, years (interquartile range) | 10 (2–28) | 9 (2–31) | 9 (2–29) |
| Sex, n (%) | Male 8 (38) | Male 8 (38) | Male 8 (38) |
| Diabetes, n (%) | 9 (43) | 9 (43) | 9 (43) |
| Renal abnormality, n (%) | |||
| -Renal cysts/cystic dysplasia | 12 (57) | 12 (57) | 8 (38) |
| -Renal hyperechogenicity | 2 (10) | 1 (5) | 2 (10) |
| -Single kidney | 1 (5) | 1 (5) | 1 (5) |
| -Multicystic and dysplastic kidney | 2 (10) | 2 (10) | 1 (5) |
| -Obstruction | – | 2 (10) | – |
The samples were matched for age, sex and diabetes status; all individuals had a serum creatinine level < 250 μmol/L
*For individuals without diabetes mellitus, controls were individuals with no HNF1B gene mutation or deletion detected on genetic testing; for individuals with diabetes mellitus, controls were individuals from the UNITED (Using pharmacogeNetics to Improve Treatment in Early-onset Diabetes) study with presumed type 1 diabetes