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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