Table 1.
Demographic and baseline clinical characteristics
| Characteristic, median (range) | Male, N=5 | Female, N=9 |
|---|---|---|
| Age, years | 10.2 (6.7, 14.4) | 14.8 (10.1, 15.9) |
| Height, cm | 132.0 (122.0, 167.0) | 161.0 (146.0, 163.0) |
| Weight, kg | 37.6 (22.0, 52.0) | 60.3 (37.0, 86.0) |
| SDNN, ms | 97.0 (43.0, 116.0) | 108.0 (68.0, 172.0) |
| r-MSSD, ms | 63.0 (12.0, 91.0) | 78.0 (27.0, 181.0) |
| pNN50, % | 23.5 (0.5, 45.4) | 41.1 (5.4, 69.2) |
| LVMI, g/m2.7 | 38.1 (20.2, 57.1) | 35.2 (21.0, 44.2) |
| MFS, % | 19.6 (12.4, 20.6) | 19.5 (16.1, 22.2) |
| eGFR, mL/min/1.73 cm2 | 113.5 (89.8, 141.9) | 116.1 (98.9, 159.1) |
| Urine protein, mg/dL | 4.3 (4.0, 6.7) | 4.0 (4.0, 39.1) |
| Urine microalbumin, mg/dL | 0.6 (0.3, 1.2) | 0.7 (0.3, 6.9) |
| Plasma Gb3, nmol/mL | 24.2 (20.6, 48.0) | 7.3 (4.6, 10.8) |
| Urine Gb3, nmol/g creatinine | 3,518.0 (1,530.0, 13,102.0) | 338.0 (183.0, 648.0) |
| Characteristic, n (%) | ||
| LVH | 1 (20) | 0 |
| Microalbuminuriaa | 5 (100.0) | 9 (100.0) |
| Elevated plasma Gb3b | 5 (100.0) | 8 (88.9) |
| Elevated urine Gb3c,d | 5 (100.0) | 9 (100.0) |
| ACE inhibitor/ARB usage | 0 | 0 |
Notes:
Spot urine microalbumin ≥0.3 mg/dL, data from Mehta A et al. and National Kidney Foundation I.32,33
Plasma Gb3 ≥5.26 nmol/mL.
Urine Gb3 ≥30 nmol/g creatinine (plasma/urine Gb3 reference ranges validated in-house, Shire).
n=2 males missing baseline plasma Gb3 values. pNN50 represents the percentage of differences between adjacent filtered RR intervals that are >50 ms for the whole analysis. r-MSSD represents the square root of the sum of squares of difference between adjacent filtered RR intervals over the length of the analysis. SDNN represents the standard deviation of all filtered RR intervals for the length of the analysis.
Abbreviations: ACE, angiotensin-converting enzyme; ARB, angiotensin II receptor blocker; eGFR, estimated glomerular filtration rate; Gb3, globotriaosylceramide; LVH, left ventricular hypertrophy; LVMI, left ventricular mass index; MFS, midwall fractional shortening.