Table 1.
Clinical features of control and AS patients.
| Patient | Age (years) | Sex | Mutated gene | Mutation type | Mutation | Protein/creatinine (g/g) | eGFR (ml/min per 1.73 m2) | Treatment |
|---|---|---|---|---|---|---|---|---|
| AS 1 | 14 | F | COL4A3 | Compound heterozygote |
Maternal: p.(Glu647Argfs*45) c.1937dup Paternal: p.(Gly1602Alafs*13) c.4803del |
0.47 | 71 | Enalapril |
| AS 2 | 11 | F | COL4A5 | Heterozygote |
p.(Gly926Alafs*70) c.2777del |
0.6 | 135 | Enalapril |
| AS 3 | 22 | M | COL4A5 | Hemizygote | p.Gly849Glu (c.2546G>A) | 0.36 | 122 | Enalapril |
| Control | 11 | F | – | – | – | Neg | – | – |
eGFR: estimated glomerular filtration rate.
Normal protein/creatinine ratio: 0.2 g/g; normal eGFR: ≥ 90 ml/min per 1.73 m2; control: healthy urine donor.