Skip to main content

Table 1 General- and Fabry-associated characteristics, biomarkers, renal function and quality of life of the index patient

From: Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Variables Index patient Reference values
 Age at first visit (years) 44  
 Body-mass-index (kg/m2) 20.7  
 Lyso-Gb3 (ng/ml) 30.2 <0.9
 α-Gal A (nmol/min/mg protein) 0.26 0.4–1.0
 NT-proBNP (pg/ml) 325 0–153 (age-dependent)
 hs-TnT (pg/ml) <5 0–14
 Serum-Creatinine (mg/dl) 0.80 0–0.95
 Cystatin C (mg/l) 0.76 0.61–0.95
 GFR DTPA Clearance (ml/min) 90 90–150
Fabry associated
 Angiokeratoma none  
 Cornea verticillata yes  
 Impaired sweating yes  
 Vertigo yes  
 Tinnitus yes  
 Frequent diarrhea yes  
 Constipation none  
 Abdominal pain none  
 Abdominal cramps none  
 Nausea/vomiting none  
 ERT Agalsidase beta  
 Beta blocker none  
 ACEi/ARBs none  
 Ca-blockers none  
 Diuretics none  
 ASA/OAC yes  
Quality of life (SF-36 questioner)
 Physical functioning 75  
 Role physical 0  
 Bodily pain 100  
 General health 45  
 Vitality 20  
 Social functioning 12.5  
 Role emotional 100  
 Mental health 48  
 Physical component summary score 41.61  
 Mental component summary score 35.17  
  1. Abbreviations: α-Gal Aalpha-galactosidase A enzyme activity, ACEi angiotensin-converting-enzyme inhibitor, ARBs Angiotensin II receptor antagonists, ASA/OAC acetylsalicylic acid/oral anticoagulation therapy, ERT enzyme replacement therapy, GFR glomerular filtration rate, hs-TnT high-sensitive troponin T, NT-proBNP N-terminal pro-brain natriuretic peptide