Table 4.
Comparison of the clinical characteristics of the 138 affected patients with chronic kidney disease by molecular genetic diagnostic category following whole exome sequencing
| Molecular genetic diagnostic category post WES | Median age in years of onset of ESKD [years] (range) | CKD only in adulthooda (%) | ESKD in adulthoodb n (%) | ESKD in childhoodc n (%) | Total numbers of “solved” individual s n (%) |
|---|---|---|---|---|---|
| Cystic Kidney Disease | 27 (12-70) | 0 | 8 (73) | 3 (27) | 11 (100) |
| CAKUT | 21.5 (9–51) | 6 (33) | 7 (39) | 5 (28) | 18 (100) |
| Chronic GN | 40 (20–52) | 3 (43) | 4 (57) | 0 | 7 (100) |
| TIKD | 38 (18–45) | 3 (50) | 3 (50) | 0 | 6 (100) |
| Renal Tubulopathy | 10, 38 | 2 (50) | 1 (25) | 1 (25) | 4 (100) |
| Nephrolithiasis/Nephrocalcinosis | 55 | 3 (75) | 1 (25) | 0 | 4 (100) |
| Steroid resistant nephrotic syndrome | 37.5 (20-78) | 0 | 4 (100) | 0 | 4 (100) |
| Other disease category | 6 | 0 | 0 | 1 (100) | 1(100) |
| All molecular diagnostic categories | 33 (6-78) | 17 (31) | 28 (51) | 10 (18) | 55 (100) |
CAKUT, congenital anomalies of the kidney and urinary tract; CKD, chronic kidney disease; ESKD, End Stage Kidney Disease; GN, glomerulonephritis; solved, a pathogenic or likely pathogenic monogenic mutation in a known CKD gene was detected following WES; TIKD, tubulo-interstitial kidney disease.
a
Adult patients who had CKD at time of analysis (i.e. Not yet progressed to ESKD in adulthood i.e. ≥ 18 years)
b
Patients who developed ESKD ≥ 18 years of age
c
Patients who developed ESKD < 18 years of age