Parameter | Men n = 15 | Women n = 7 | Overall N = 22 |
---|---|---|---|
Age (years) | |||
Mean (SD) | 42.7 (10.6) | 46.7 (12.3) | 44.0 (11.0) |
Median (range) | 44.0 (24, 60) | 50.0 (26, 59) | 44.5 (24, 60) |
Age starting ERT (years) | |||
Mean (SD) | 32.6 (11.8) | 39.4 (11.6) | 34.8 (11.9) |
Median (range) | 37.0 (12, 49) | 41.0 (21, 53) | 38.0 (12, 53) |
% Residual enzyme activity in leukocytesa | |||
Mean (SD) | 4.8 (2.5) | 27.9 (10.2) | 12.2 (12.5) |
Median (range) | 4.0 (2, 10) | 23.7 (16, 46) | 5.3 (2, 46) |
% Residual enzyme activity in plasma | |||
Mean (SD) | 2.2 (3.2) | 28.5 (12.7) | 10.6 (14.5) |
Median (range) | 0.8 (0.1, 13) | 23.9 (17, 51) | 2.5 (0.1, 51) |
Plasma lyso-Gb3 (nmol/L)b | |||
Mean (SD) | 49.7 (45.8) | 13.8 (6.1) | 38.3 (41.2) |
Median (range) | 39.9 (1, 189) | 12.9 (7, 23) | 27.6 (1, 189) |
Plasma Gb3 (µmol/L)c | |||
Mean (SD) | 6.3 (2.1) | 5.5 (1.9) | 6.0 (2.0) |
Median (range) | 6.2 (3, 11) | 6.1 (3, 8) | 6.2 (3, 11) |
eGFRCKD-EPI (mL/min/1.73 m2) | |||
Mean (SD) | 80.8 (26.0) | 86.1 (17.8) | 82.5 (23.4) |
Median (range) | 78.1 (49, 124) | 87.7 (55, 109) | 87.0 (49, 124) |
Annualized eGFR sloped (mL/min/1.73 m2/year) | |||
Mean (SD) | − 5.4 (7.1) | − 5.0 (4.4) | − 5.3 (6.3) |
Median (range) | − 4.4 (− 21, 6) | − 3.7 (− 11, 2) | − 4.3 (− 21, 6) |
UPCR categories | |||
Severely increased, proteinuria (UPCR > 500 mg/g), n (%) | 4 (27) | 0 | 4 (18) |
Moderately increased (UPCR ≥ 150 mg/g and ≤ 500 mg/g), n (%) | 1 (7) | 2 (29) | 3 (14) |
Patients treated with ACEi/ARB, n (%) | 8 (53.3) | 4 (57.1) | 12 (54.5) |