TABLE 2.
Clinical features of the 34 ATS patients with heterozygous COL4A3 and COL4A4 mutations stratified according to the site and type of mutations (numbers and percentages are relative to patients for whom clinical information was available)
| Clinical features | COL4A3 and COL4A4 | ||
|---|---|---|---|
| Frameshift/splicing (N = 10) | Glycine missense (N = 21) | Non‐glycine missense (N = 3) | |
| Age at evaluation (years and range) | 39.8 (13–53) | 45.5 (13–77) | 33 (6–51) |
| M/F | 7/3 | 15/6 | 1/2 |
| Microhematuria (HP:0002907) | 5/5 (100%) | 19/20 (95%) | 3/3 (100%) |
| Proteinuria (HP:0000093) | 0/5 | 9/18 (50%) | 1/3 (33%) |
| Renal failure (HP:0003774) | 4/6 (66%) | 4/21 (19%) | 0/3 |
| Mean age of renal failure (years and confidence interval) | 54.8 (45.8–63.9) | 69.4 (63.3–75.5) | — |