Table 2.
Associations between gene and renal phenotype
| Gene | Patients | Families | Median age (range)a (years) | Median age symptom onset (range)a(years) | Median age ESRD (range)a(years) | Median time to ESRD (range)a,b(years) | Polyuria | Polydipsia | Enuresis | Renal ultrasound findings | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cysts | Abnormal corticomedullary differentiation | Increased echogenicity | ||||||||||
| NPHP1 | n = 16 | n = 14 | 21 (9–62) | 9 (6–26) | 14 (7–28) | 1 (0–8) | 90% (9/10) | 80% (8/10) | 38% (3/8) | 33% (4/12) | 38% (3/8) | 70% (7/10) |
| NPHP4 | n = 3 | n = 3 | 19 (11–41) | 16 (8–24) | 8 | 0 | 33% (1/3) | 67% (2/3) | 0% (0/3) | 50% (1/2) | 50% (1/2) | 100% (2/2) |
| WDR35 | n = 3 | n = 2 | 17 (12–33) | 9 | 12 | 3 | 67% (2/3) | 50% (1/2) | 0% (0/2) | 67% (2/3) | 33% (1/3) | 100% (2/2) |
| BBS1 | n = 2 | n = 1 | 18 (16–20) | NA | – | NA | 0% (0/1) | 0% (0/1) | 0% (0/1) | 50% (1/2) | 0% (0/2) | 0% (0/2) |
| AHI1 | n = 1 | n = 1 | 25 | 14 | – | NA | 0% (0/1) | 0% (0/1) | 0% (0/1) | 0% (0/1) | 0% (0/1) | 0% (0/1) |
| BBS10 | n = 1 | n = 1 | 13 | NA | – | NA | 100% (1/1) | 100% (1/1) | 0% (0/1) | 100% (1/1) | 100% (1/1) | 100% (1/1) |
| IQCB1 | n = 1 | n = 1 | 29 | NA | 10 | NA | NA | NA | NA | NA | NA | NA |
| OFD1 | n = 1 | n = 1 | 12 | 5 | 5 | 0 | NA | NA | NA | 0% (0/1) | 0% (0/1) | 100% (1/1) |
| Unknown | n = 12 | n = 12 | 21 (15–54) | 13 (5–33) | 14 (8–47) | 11 (8–14) | 33% (2/6) | 86% (6/7) | 33% (1/3) | 50% (4/8) | 17% (1/6) | 57% (4/7) |
| Total | n = 40 | n = 36 | 19 (9–62) | 9 (5–33) | 13 (5–47) | 1 (0–14) | 60% (15/25) | 72% (18/25) | 21% (4/19) | 43% (13/30) | 32% (7/22) | 65% (17/26) |
ESRD end-stage renal disease; − absent, no ESRD; NA not available
aWhen range is not reported, the value is based on one patient
bPatient age at CKD stage 5 was used as the age at ESRD. If this was not available, the youngest reported age at the start of dialysis/transplantation was used. Median time to ESRD could be an underestimate because patients who did not develop ESRD were not included in this calculation