Table 2.
Characteristics of patients eligible for NGS
| Eligible cohort (n = 138) | ||
|---|---|---|
| Features | Paediatric (n = 52) | Adults (n = 86) |
| Sex | ||
| Female n (%) | 28 (53.8) | 32 (37.2) |
| Male n (%) | 24 (46.2) | 54 (62.8) |
| Positive family history n (%) | 18 (34.6) | 49 (57.0) |
| Age at onset mean (min–max) | 3 (0–14) | 37 (0–80) |
| Clinical suspicion | ||
| CAKUT n (%) | 3 (5.8) | 0 (0) |
| Tubular disease n (%) | 5 (9.6) | 6 (7) |
| Ciliopathies n (%) | 13 (25) | 19 (22.1) |
| Nephrolithiasis/nephrocalcinosis n (%) | 1 (1.9) | 1 (1.2) |
| Glomerular disease n (%) | 9 (17.3) | 12 (13.9) |
| Haemolytic uraemic syndrome n (%) | 1 (1.9) | 3 (3.5) |
| Organ failure for unknown reasons n (%) | 18 (34.6) | 42 (48.8) |
| Others n (%) | 2 (3.9) | 3 (3.5) |
| Genetic diagnosis | ||
| Cases with variants identified and in line with the clinical phenotype | 30 (57.7) | 48 (55.8) |
| Cases with no variants identified or incompatible with the clinical phenotype | 22 (42.3) | 38 (44.2) |
| CKD stage | ||
| I | 39 (75) | 34 (39.6) |
| II | 6 (11.5) | 8 (9.3) |
| III | 2 (3.9) | 15 (17.5) |
| IV | 1 (1.9) | 11 (12.8) |
| V | 0 (0) | 10 (11.6) |
| Dialysis | 0 (0) | 4 (4.6) |
| Transplanted | 4 (7.7) | 4 (4.6) |
| Kidney biopsy performed | 15 (28.8) | 29 (33.7) |
| Imaging | 41 (78.8) | 69 (80.2) |
| Glomerular filtration rate (ml/min/1.73 m2) | ||
| ≥ 90 | 39 (75) | 34 (39.6) |
| 60–89 | 6 (11.5) | 7 (8.1) |
| 30–59 | 2 (3.9) | 16 (18.6) |
| 15–29 | 1 (1.9) | 12 (13.9) |
| < 15 | 4 (7.7) | 17 (19.8) |
| Other characteristics | ||
| Diabetes | 0 (0) | 5 (5.8) |
| Hypertension | 8 (15.4) | 60 (69.8) |
| Extra-renal features | 21 (40.4) | 28 (32.6) |
Clinical details of the NGS-eligible study cohort (138 patients). Eligible patients are sub-divided on the basis of their gender, presence of a positive family history for kidney diseases, age at onset (mean, min and max age), clinical suspicion provided by clinicians at recruitment, results from genetic testing, chronic kidney disease (CKD) stage, availability of kidney biopsy or imaging data, glomerular filtration rate and other features. Number and percentage of cases are shown. CAKUT: congenital abnormalities of kidney and urinary tract