Table 1.
Summary of demographic and diagnostic results of the 542 families in Australia and New Zealand stratified by panel.
| Panel | Number of patients (families) | %F | Median pediatric age at referral (IQR) (year) | Pediatric diagnostic rate (%) | Median adult age at referral (IQR) (year) | Adult diagnostic rate (%) | Overall diagnostic rate (%) |
|---|---|---|---|---|---|---|---|
| ADTKD | 36 (35) | 53 | 11 (4) | 0 | 48 (28) | 24 | 17 |
| aHUS/C3 GN | 154 (152) | 62 | 7 (5.5) | 23 | 34 (25.5) | 17 | 18 |
| Alport | 90 (86) | 57 | 9 (8) | 64 | 36 (18.5) | 67 | 65 |
| ARPKD | 12 (12) | 50 | 5 (8.75) | 25 | − | − | 25 |
| BORS | 5 (5) | 60 | 2 (5.5) | 33 | 28 (4) | 0 | 20 |
| CAKUT | 40 (39) | 35 | 5 (7.5) | 12 | 35.5 (13.75) | 17 | 13 |
| Custom | 12 (12) | 50 | 7.5 (6.75) | 38 | 39.5 (18) | 25 | 33 |
| Cystinosis | 2 (2) | 50 | 9 (3) | 100 | − | − | 100 |
| Nephrotic | 106 (106) | 46 | 6 (10) | 31 | 41.5 (21) | 32 | 31 |
| NPHP & related ciliopathies | 68 (66) | 46 | 6 (8.75) | 30 | 36.5 (14.5) | 50 | 33 |
| Tubulopathies | 69 (68) | 58 | 5 (9) | 50 | 31 (21.75) | 36 | 44 |
A family may be counted in both pediatric and adult cohorts if they have pediatric and adult probands. Diagnostic rate was defined as the proportion of referred families in which a pathogenic or likely pathogenic variant was detected, according to 2015 ACMG guidelines20. Sex ratio was abbreviated as %F (percent female). Interquartile range was abbreviated as IQR.
Abbreviated panels are as follows: ADTKD autosomal dominant tubulointerstitial kidney disease, aHUS/C3 GN atypical hemolytic uremic syndrome-C3 glomerulonephritis, Alport Alport syndrome, ARPKD autosomal recessive polycystic kidney disease, BORS branchio-oto renal syndrome, CAKUT congenital anomalies of the kidney and urinary tract, Nephrotic nephrotic syndrome, NPHP & related ciliopathies nephronophthisis & related ciliopathies.