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Table 1 Summary of four patients with Fabry disease

From: A case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)

  Sex Age at diagnosis Age at ERT start BMI at diagnosis α-GAL activity (mmol/h/mg protein) Cre at diagnosis (mg/dl) Up at diagnosis (g/day) HT DM Serum lyso-Gb3 (nmol/L) before ERT Serum lyso-Gb3 (nmol/L) after ERT Urine Gb3 before ERT Urine Gb3 after ERT Gene mutation
Normal value      20–80      <2 <2    
Mother F 53 53 24.4 13 0.51 0.1 + <2 N/A N/A R301Q
(cga→caa)
Patient M 18 18 29.9 0.5 0.5 1.0 + 3.9 3.0 + + R301Q
(cga→caa)
Sister F 26 No 43.3 16 0.62 5.5a + 4.3 N/A + N/A R301Q
(cga→caa)
Unrelated M 34 34 34.4 0 1.49 0.5 131 N/A + N/A W340X
(tgg→tag)
  1. HT hypertension, DM diabetes mellitus, BMI body max index, ERT enzyme replacement therapy, Cre creatinine, Up urinary protein, N/A not available
  2. aValue was presented as g/gCre