Table 2.
Characterization of patients with Fabry disease
| Patient no. | Lyso-Gb3 level (ng ml –1) | α-Gal A activity (nmol h –1 ml –1) | GLA mutation | Age (years) | Classic manifestation | Heart | Kidney a | Central nervous system | |
|---|---|---|---|---|---|---|---|---|---|
| Males; classic type | |||||||||
| Pediatrics | 1 | 190.2 | 0.4 | p.L68F | 13 | Acroparesthesia; hypohidrosis | |||
| 2 | 172.2 | 0.3 | p.G85V | 9 | Acroparesthesia; hypohidrosis | ||||
| Males; late-onset type | |||||||||
| Cardiology | 3 | 15.6 | 1.1 | p.R301Q | 55 | LVH | |||
| 4 | 14.5 | 1.0 | p.Q312R | 77 | LVH | ||||
| 5 | 3.6 | 2.7 | p.R112H | 61 | LVH | G5DA1 | |||
| Nephrology | 6 | 4.1 | 0.6 | p.R112H | 42 | G2A3 | |||
| 7 | 4.0 | 1.3 | p.K391E | 75 | G5DA2 | Stroke | |||
| Females; classic type | |||||||||
| Cardiology | 8 | 24.2 | 1.6 | p.R220P | 65 | Angiokeratoma; cornea verticillata | LVH | G3bA1 | Stroke |
| 9 | 21.8 | 3.2 | c.559_560 delAT | 65 | Acroparesthesia; gastrointestinal symptoms | LVH | Stroke | ||
| 10 | 4.0 | 8.0 | p.D231N | 63 | Arrhythmia; heart failure | ||||
| Nephrology | 11 | 15.0 | 2.6 | p.L415P | 32 | Acroparesthesia | LVH | G1A3 | |
| Neurology | 12 | 135.0 | 0.8 | p.N263S (XO) | 27 | Acroparesthesia; hypohidrosis; angiokeratoma | Arrhythmia | G1A3 | |
| Females; late-onset type | |||||||||
| Nephrology | 13 | 3.3 | 2.6 | p.L403S | 53 | LVH | G5A3 | ||
LVH, left ventricular hypertrophy; XO, gonadal dysgenesis.
aGlomerular filtration rate category [ml min−1 (1.73m2)−1]: G1, ≥90; G2, 60–89; G3a, 45–59; G3b, 30–44; G4, 15–29; G5, <15; D, dialysis15. Proteinuria category (urinary protein-to-creatinine ratio; g/gCr): A1, <0.15; A2, 0.15–0.49; A3, ≥0.50.