Skip to main content

Table 1 Characteristics of patients identified in the screening

From: Frequency of Fabry disease in male and female haemodialysis patients in Spain

Patient Characteristics Mutation Sex Age, years α-Gal A activity on Leukocytes, nmol/h/mg of protein α-Gal A activity on DBS, nmol/h/spot α-Gal A mutation
        Genomic Reference Sequence (X14448) Coding DNA Reference Sequence (X14448)
1 Angiokeratoma; fever episodes; hypohidrosis; gastrointestinal problems; proteinuria; progressive hearing loss; valvular dysfunction and arrhythmias; stroke at 71 years; Mother died due to a Transient Ischemic Attack (TIA). R118C Male 72 20 (35% of control mean) 0.164 (26% of control mean) g.5251 C>T c.352 C>T
2 Abdominal pain; nephropathy; left nephrectomy; cataracts; progressive loss of vision. Sister diagnosed with FD. Presents Front temporal sub cortical and cortical atrophy; periventricular hypodensity of white matter R118C Male 83 n.a. 0.122 (20% of control mean) g.5251 C>T c.352 C>T
3 End-Stage Renal Disease (ESRD), LHV, valvular dysfunction D313Y Female 80 28 (49% of control mean) 0.371 (59% of control mean) g.10645 G>T c.937 C>T
4* Proteinuria glomerulosclerosis and hyalosis in kidney biopsy; kidney transplantation failure; HBP; Human Immunodeficiency Virus (HIV); An uncle and a cousin with kidney dysfunction. Another cousin with hypoacusia R118C Female 47 45 (79% of control mean) 0.592 (94% of control mean) g.5251 C>T c.352 C>T
5* Sister of patient 4 also identified as an index patient. LVH in dilatation phase and multi-valvular disease; HBP. Pigmentary macular edema; Cirrhosis, HIV; Son and sister with FD; Both with proteinuria. R118C Female 50 34 (60% of control mean) 0.770 (123% of control mean) g.5251 C>T c.352 C>T
6 Angiokeratoma; acroparesthesia; fever episodes; abdominal pain; nephropathy; policysts; LVH, auricular fibrillation; acute myocardial infarction. Two daughters diagnosed with FD p.Val199GlyfsX203 Female 58 n.a 0.153 (24% of control mean) g.8368_8369 insG c.595_596 ins G
7 Nephropathy; Psychological problems; kidney transplant, TIA, valvular dysfunction, arrhythmias patient refused to be studied. Relative diagnosed with FD p.Gly346AlafsX347 Male 54 n.a. 0.001 (0% of control mean) g.11016delG c.1037 delG
8 Dyspnea, palpitations, proteinuria, kidney transplant, LHV, valvular dysfunction, arrhythmias. D313Y Male 74 22 (39% of control mean) 0.292 (46% of control mean) g.10645 G>T c.937 C>T
  1. Control Values DBS - Mean -> 0.62 nmol\h\spot; Minimum -> 0.3 nmol\h\spot
  2. Leucocytes - Mean -> 57 nmol\h\mg of protein; Minimum -> 28 nmol\h\mg of protein
  3. () - Percentage of the mean value obtained in controls and patients, respectively;
  4. n.a. - not available; * - sisters