Skip to main content

Table 1 Alkaptonuria patients enrolled for the study and their characteristics

From: Diagnosis of secondary amyloidosis in alkaptonuria

Features Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7 Patient 8 Patient 9 Patient 10
Age (years) 71 60 63 42 60 58 42 38 65 55
Sex F F F F M M M F F F
Serology           
SAA mg/L 117.70 87.14 97.44 18.16 25.35 25.44 25.13 16.13 28.46 69.90
HGA plasma level μmol/L 31.10 72.90 20.56 15.80 17.02 22.43 18.95 15.21 31.76 13.42
HGA urine level mmol/L 23.70 16.90 22.64 21.70 22.30 18.64 24.10 12.68 22.76 16.60
Congo Red birefringence score           
Abdominal fat n.d. - - - - - - - n.d. +
Salivary gland +++ ++ ++ ++ ++ +++ ++ +++ ++ ++
Synovia    +++        
Cartilage    +++   +++      
Aortic valve    +++   +++      
Prostatic stone      ++      
ThT fluorescence (+/-)           
Salivary gland positive positive positive positive positive positive positive positive positive positive
Synovia    positive   positive      
Cartilage    positive   positive      
Aortic valve    positive        
Prostatic stone      n.d.      
SAA immunohistology (+/-)           
Salivary gland positive positive positive positive positive positive positive positive positive positive
Synovia   positive   positive   positive positive    
Cartilage   positive positive   positive positive positive    
Prostatic stone      positive      
Aortic valve    positive        
SAP immunohistology (+/-)           
Salivary gland positive positive positive positive positive positive positive positive positive positive
Synovia    positive   positive      
Cartilage    positive   positive      
Aortic valve    positive        
Prostatic stone      positive      
TEM Amyloid abundance score           
  +++ +++ ++ +++ +++ +++ ++ +++ ++ +
  1. F: female, M: male, n.d.: not determined. The patients were classified on the basis of Congo red intensity of staining (grades: +++, very intensive; ++, intensive; +, weak; -, no birefringence). The presence of amyloid deposits in LSG observed at TEM was evaluated as: +++ = very abundant, ++ = medium; + = faint. Positivity for ThT fluorescence and SAA and SAP immunohistology is also reported.