Table 1.
Participant characteristics of 310 children with autosomal dominant polycystic kidney disease
| Patient characteristics | Number (percent) Mean±SD |
|---|---|
| No. of patients | 310 |
| Age, yr | 11.5±4.1 |
| Sex, boy-to-girl ratio | 162:148 (52:48) |
| Birth weight, ga | 3291±620 |
| Family history | |
| Paternal inheritance | 130 (42) |
| Maternal inheritance | 128 (41) |
| Absence of familial history | 27 (9) |
| Details not available | 25 (8) |
| Genetic diagnosis | |
| PKD1 gene mutation | 38 (12) |
| PKD2 gene mutation | 0 (0) |
| Not tested | 272 (88) |
| Kidney functionb | |
| eGFR, ml/min per 1.73 m2 | 120±18 |
| Decreased eGFR, <90 ml/min per 1.73 m2 | 15/278 (5) |
| No. of BP medications | |
| None | 248/310 (80) |
| Anyc | 62/310 (20) |
| 1 | 48/310 (165) |
| 2 | 12/310 (4) |
| 3 | 2/310 (0.6) |
Main patient characteristics. Numbers in parentheses indicate percentage values. In 27 patients without family history, the diagnosis was on the basis of genetic testing. Only pathogenic mutations in the PKD1 gene were reported.
a
Birth weight was available for 113 patients (four patients with premature birth were excluded).
b
eGFR data were available for 278 patients (90%).
c
Medications included angiotensin-converting enzyme inhibitors or angiotensin receptor blockers in 90% of patients, calcium channel blockers in 27% of patients, β- or α- and β-blockers in 9% of patients, and diuretics in 7% of patients.