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 |