Table 1.
Baseline characteristics of the study cohort.
| Patient No. |
Sex/Age (yr) | HTN/DM | Mutation | eGFR (mL/min/1.73 m2) |
CKD Stage |
UACR (mg/g) |
Proteinuria (g/24 h) |
RAAS Blocker |
ERT Duration (mo) |
Cardiac Involvement |
Neurologic Manifestation |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M/17 | +/− | c.779G > A | 44.7 | 3 | 500 | 3.26 | + | 0 | − | + |
| 2 | M/10 | −/+ | c.797A > C | 87.5 | 2 | 10 | 0.08 | − | 0 | + | − |
| 3 | M/41 | −/− | c.863C > A | 45 | 3 | 100 | 1.37 | + | 0 | + | + |
| 4 | M/26 | −/− | c.836A > G | 89 | 2 | 345 | 0.3 | − | 0 | − | + |
| 5 | M/44 | −/− | c.644A > G | 29 | 4 | 600 | 3.5 | − | 0 | − | − |
| 6 | M/39 | −/− | c.671delA | 67 | 2 | 80 | 0.15 | + | 0 | + | + |
| 7 | M/29 | −/− | c.797A > C | 120 | 1 | 10 | 0.2 | − | 0 | − | + |
| 8 | F/50 | +/− | c.797A > C | 56 | 3 | 100 | 0.4 | + | 0 | + | + |
| 9 | F/55 | +/− | c.1224del66 | 61 | 2 | 819 | 1.8 | + | 0 | + | + |
| 10 | F/49 | −/− | c.779G > A | 104.2 | 1 | 100 | 0.2 | − | 0 | − | + |
| 11 | F/46 | −/− | c.797A > C | 96 | 1 | 10 | 0.1 | − | 0 | − | + |
| 12 | F/30 | −/− | c.797A > C | 88 | 2 | 10 | 0.2 | − | 0 | − | − |
| 13 | F/35 | −/− | c.295C > T | 81 | 2 | 20 | 0.3 | − | 0 | − | − |
| 14 | F/63 | +/− | c.1228A > G | 59 | 3 | 30 | 0.22 | + | 0 | + | + |
| 15 | F/35 | +/− | c.485G > A | 40 | 3 | 900 | 4.5 | − | 0 | − | + |
| 16 | F/61 | +/+ | c.141G > A | 85.3 | 2 | 20 | ND | + | 0 | + | + |
| 17 | M/43 | −/− | c.836A > G | 111 | 1 | 300 | 1.17 | + | 12 | − | + |
| 18 | M/32 | −/− | c.1121_1123delAAG | 120 | 1 | 20 | ND | − | 144 | + | + |
| 19 | M/58 | −/− | c.295C > T | 102 | 1 | 10 | 0.2 | − | 72 | − | + |
| 20 | M/37 | +/− | c.485G > A | 98 | 1 | 500 | 2.2 | + | 120 | + | + |
| 21 | F/57 | +/− | c.485G > A | 88 | 2 | 150 | 0.2 | + | 27 | − | + |
HTN = arterial hypertension; DM = diabetes mellitus; eGFR = estimated glomerular filtration rate; UACR = urine albumin/creatinine ratio; ND = not detectable; RAAS = renine-angiotensin-aldosteron system; ERT= enzyme replacement therapy.