Table 1

Clinical and genetic findings for male patients with classical phenotype Fabry disease

Subject numberSN 1SN 2SN 3SN 4SN 5SN 6SN 7SN 8
GenderMaleMaleMaleMaleMaleMaleMaleMale
Diagnosis (age, years)128163528444642
α-GAL activity*
% of median for wild-type
0.0%0.0%0.0%0.0%0.0%0.3%1.1%0.0%
GLA mutation c.c.1235_1236delc.1024 C>Tc.426C>Gc.658C>Tc.182_183insc.137A>Gc.966C>Gc.296_297del
GLA mutation p.p.Thr412SerfsX37p.Arg342Xp.Cys142Trpp.Arg220Xp.Asp61GlufsX32p.His46Argp.Asp322Glup.Asp101PhefsX21
ERT duration (months)063058048061048096060055
Serum Gb3
(3.9–9.9 µg/mL)
115.229792.5147.8195.4136.9198.6366.4
Angiokeratoma(−)(−)(−)(−)(+)(+)(−)(−)(+)(+)(+)(+)(−)(−)(+)(+)
Cardiac hypertrophy†(+)(−)(−)(−)(−)(−)(−)(+)(−)(−)(+)(+)(+)(+)(+)(+)
Sensorineural hearing loss(−)(−)(−)(−)(−)(−)(+)(+)(+)(+)(+)(+)(+)(+)(+)(+)
Anhidrosis/hypohydrosis(+)(+)(+)(+)(+)(+)(−)(−)(+)(+)(+)(+)(+)(+)(+)(+)
Acroparesthesia(+)(+)(+)(+)(+)(+)(−)(−)(−)(−)(−)(−)(+)(+)(+)(+)
Stroke(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)(−)
eGFR (ml/min/1.73 m2)‡1161321261221491329761118117<5<51021107467
  • *Normal range of α-GAL activity in leucocytes, 72.41±34.66 nmol/hour/mg.

  • †Cardiac hypertrophy was determined by echocardiography, which was defined as left ventricular mass >51 g/m2.7 in men and >48 g/m2.7 in women. Paediatric criteria for left ventricular hypertrophy were used for paediatric patients.44

  • ‡The eGFR was calculated by the Modification of Diet in Renal Disease equation in adults45 and the Schwartz formulation in children.46

  • eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy.