Table 1. Demographic, renal and audiometric data of Fabry disease patients.
| Men (n = 29) | Women (n = 54) | |
|---|---|---|
| Mean age in years | 29 (9–53) | 39 (10–72) |
| Mean average PTA(0.5,1,2,4 kHz) dB HL | 9.9 (0.6–33.8) | 9.4 (-0.6–44.3) |
| Mean average PTA(4,8 kHz) dB HL | 23.2 (2.5–86.3) | 20 (-1.3–71.3) |
| Mean Speech Discrimination Score in % | 98.9 (68–100) | 99.7 (95–100) |
| Slight Impairment (26–40 dB) better ear | 1 (age 53) | 0 |
| Moderate Impairment (41–60 dB) better ear | 0 | 1 (age 66) |
| Asymmetric hearing >15dB | 0 | 0 |
| Mean Z-score PTA(0.5,1,2,4 kHz) | -0.92 (0.16–3.31) | -0.45 (0.73–1.48) |
| Mean Z-score PTA(4,8 kHz) | -1.44 (0.34–6.66) | -0.59 (0–76–1.57) |
| mGFR (ml/min/1.73m2) | 83 (21–129)x | 92 (27–120)† |
| Z-score mGFR/1.73m2 | -1.40 (2.06 - -5.70)x | -0.39 (0.95 - -4.47)† |
| Albuminuria (mg/day) | 681 (4–2317)♥ | 255 (4–3284)Ω |
| Left Ventricular Mass Index (g/m2) | 119 (73–271)μ | 113 (50–231)α |
| Globotriaosylceramide (Gb3) (μmol/L) | 7.0 (2.8–11.9)β | 4.0 (2.0–8.7)π |
| Alfa-Galactosidase (nmol/h/mg protein) | 1.95 (1.1–3.1) β | 15.9 (1.8–39)• |
Mean Z-Scores indicate how many standard deviations Fabry patients parameter (Hearing threshold or mGFR) deviates from the mean of a sex and age corresponding healthy cohort.
PTA = Pure tone average (mean values of hearing thresholds), mGFR = Measured Glomerular Filtration Rate, HL = Hearing Level, Parenthesis indicate range unless otherwise stated
xn = 25
†n = 50
♥n = 16
Ωn = 37
μn = 40
αn = 37
βn = 20
πn = 44
•n = 35