Table 1 Specific genetic renal diseases in the adult CKD population (n = 2935)
Genetic renal disease | Number | CKD cohort prevalence | General population prevalence (per million population 18 + yrs)* | eGFR mean/median (ml/min/m2) | Age mean/median (years) | Female |
|---|---|---|---|---|---|---|
Autosomal dominant polycystic kidney disease | 127 | 4.3% | 60.88 | 50.72/46 | 53.37/53.53 | 51.18% |
Congenital anomalies of the kidney and urinary tract | 106 | 3.6% | 50.81 | 41.74/38 | 54.52/56.90 | 48.11% |
Medullary cystic kidney disease | 15 | 0.5% | 7.19 | 45.87/39 | 48.65/49.27 | 60% |
Thin basement membrane nephropathy | 12 | 0.4% | 5.75 | 82.33/91 | 51.04/57.01 | 91.67% |
Alport syndrome | 5 | 0.2% | 2.40 | 85.4/91 | 29.46/25.61 | 80% |
Tuberous sclerosis complex | 5 | 0.2% | 2.40 | 64.4/69 | 56.34/51.63 | 100% |
Atypical hemolytic uremic syndrome | 3 | 0.2% | 2.40 | 45.67/44 | 36.66/41.44 | 100% |
Birt-Hogg-Dube syndrome | 3 | 0.1% | 1.44 | 69.33/91 | 55.79/52.75 | 100% |
Membranoproliferative Glomerulonephritis Type 2 (“Dense deposit disease”) | 2 | 0.1% | 0.96 | 48/48 | 61.25/61.25 | 50% |
Fabry disease | 2 | 0.1% | 0.96 | 88/88 | 57.77/57.77 | 50% |
Nephronophthisis | 2 | 0.1% | 0.96 | 40.5/40.5 | 25.46/25.46 | 50% |
Familial focal segmental Glomerulosclerosis | 2 | 0.1% | 0.96 | 65/65 | 30.50/30.50 | 50% |
Gitelman syndrome | 1 | 0.1% | 0.48 | 91/91 | 27.89/27.89 | 100% |
Nail Patella syndrome | 1 | 0.1% | 0.48 | 27/27 | 30.30/30.30 | 0% |
Renal tubular acidosis | 1 | 0.1% | 0.48 | 20/20 | 81.28/81.28 | 0% |
TOTAL | 287 | 9.8% | 137.58 | 49.72/45 | 52.6/53.39 | 54.01% |