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Table 3 Clinical features and enzyme analyses of the Fabry patients

From: Exploratory screening for Fabry’s disease in young adults with cerebrovascular disorders in northern Sardinia

Patients

Gender

Age at

Manifestations

α-galactosidase A

Lyso-Gb3

(RV: ≥2 μmol/l/h)

(RV: ≤1.8 ng/ml)

  

Diagnosis

Acroparesthesia

Cerebrovascular

Cardiac

Renal

  

P 1a

M

41

+

WMLs, pulvinar sign

Left ventricular hypertrophy

CKD

0.5

33.3

2a

F

51

+

-

Silent acute coronary syndrome

-

8.1

5,6

3a

M

31

+

-

-

Proteinuria

0.66

31.1

4a

M

29

+

-

Atrial fibrillation

-

2

/

5a

M

23

+

-

-

-

2

51

6a

F

18

+

-

-

-

6.6

4.7

P 7b

F

51

-

Recurrent stroke and WMLs

Left ventricular hypertrophy

CKD

15.4

2.5

8b

M

21

-

-

-

-

2

/

9b

F

49

-

-

-

-

5.3

1.3

  1. Abbreviations: P proband; aR227Q, bD313Y, + yes, − no, RV reference values, /,not available