Table 2.
Clinical Findings at Presentation of 17 Index Patients and 25 Family Members With a Mono-allelic DNA Variant in COL4A3 or COL4A4
| Index Patients | Family Members | |
|---|---|---|
| Total number, n | 17 | 25 |
| Positive family history, n (%) | 17 (100%) | — |
| Median age at presentationa, y (range) | 43 (4-55) | 39 (8-66) |
| Sex, n (%) | ||
| Female | 9 (53%) | 16 (64%) |
| Male | 8 (47%) | 9 (36%) |
| Hearing loss, n (%) | ||
| Yes | 1 (6%) | 1 (4%) |
| No | 16 (94%) | 24 (96%) |
| Ocular findingsb, n (%) | ||
| Yes | 1 (6%) | 0 (0%) |
| No | 16 (94%) | 25 (100%) |
| Microscopic hematuria, n (%) | ||
| Yes | 17 (100%) | 20 (80%) |
| No | 0 (0%) | 1 (4%) |
| Unknown | - | 4 (16%) |
| Proteinuria, n (%) | ||
| No | 3 (17.5%) | 3 (12%) |
| 30-300 mg /24 h or /10 mmol creatinine | 3 (17.5%) | 3 (12%) |
| ≥300 mg /24 h or /10 mmol creatinine | 11 (65%) | 14 (56%) |
| Unknown | - | 5 (20%) |
| Median age at last FU, y (range) | 52 (32 – 67) | 54 (13 – 82) |
| CKD stage at end of FU (eGFR using CKD-EPI), n (%) | ||
| Stage 1 (eGFR >90 mL/min/1.73 m2) | 5 (29%) | 7 (28%) |
| Stage 2 (eGFR 60-89 mL/min/1.73 m2) | 5 (29%) | 7 (28%) |
| Stage 3 (eGFR 30-59 mL/min/1.73 m2) | 4 (24%) | 4 (16%) |
| Stage 4 (eGFR 15-29 mL/min/1.73 m2) | 0 (0%) | 1 (4%) |
| Stage 5 (eGFR <15 mL/min/1.73 m2) | 3 (18%) | 4 (16%) |
| Unknown | — | 2 (8%) |
Abbreviations: CKD-EPI, Chronic Kidney Disease Epidemiology Collaboration; eGFR, estimated Glomerular Filtration Rate; FU, follow-up.
a
Age at clinical presentation was determined retrospectively based on first symptom (glomerular hematuria and/or proteinuria) attributable to COL4A3 or COL4A4 variant.
b
Under dot-and-flecks retinopathy.