Table 1. Clinical characteristics of subjects.
Case | Sex | Age (year) | UPCR (mg/g) | UACR (mg/g) | GFR (ml/min/1.73 m2) | GLA Mutation | Mutation Type | Aangiokeratoma | Corneal Opacity |
1 | F | 8 | 40 | NA | NA* | NA | NA | + | + |
2 | F | 11 | 0.02 | 53 | 105 | c.800T>G(p.M267R) | Missense | + | + |
3 | F | 12 | 29 | NA | 109 | W236X | Nonsense | − | − |
4 | F | 13 | 0 | NA | 97 | Y216D | Missense | − | + |
5 | F | 13 | 60 | 5 | 100 | NA | NA | + | − |
6 | F | 14 | 62 | 11 | 90 | c.800T>G(p.M267R) | Missense | NA | NA |
7 | F | 16 | 30 | 12 | 127 | NA | NA | − | − |
8 | F | 34 | 150 | NA | 118 | R301Q | Missense | + | − |
9 | F | 34 | 100 | 5 | 99 | R112C | Missense | − | + |
10 | F | 39 | 100 | NA | 78 | 1270T | Missense | + | + |
11 | F | 39 | 40 | ND | 99 | N215S | Missense | + | − |
12 | F | 63 | 1150 | NA | 46 | C.427G>Cp.Ala143Pro | Missense | + | − |
13 | M | 7 | 0 | NA | 183 | Y216D | Missense | + | + |
14 | M | 16 | 92 | 12 | 112 | c.1212_1214delAAG | Deletion | + | + |
15 | M | 18 | 251 | 135 | 96 | c.800T>G(p.M267R) | Missense | + | + |
16 | M | 23 | 102 | NA | 111 | NA | NA | NA | NA |
Abbreviations: UPCR = urine protein/creatinine ratio; UACR = urine albumin/creatinine ratio; GFR = glomerular filtration rate; NA = data not available; *Serum creatinine within the normal range; F = female; M = male; ND = Not detectable.