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. 2012 Dec 21;7:100. doi: 10.1186/1750-1172-7-100

Table 1.

Demographic data, clinical manifestation, and diagnostic parameters in Alport syndrome patient groups and subgroupsa

Variable Initially misdiagnosed group
 Initially correctly diagnosed group
Total mXLAS fXLAS ARAS Total mXLAS fXLAS ARAS
Case number
 52
 17
 23
 12
 52
 17
 23
 12
Sex (male/female)
 22/30
 -
 -
 5/7
 23/29
 -
 -
 6/6
Age (years)
  
  
  
  
  
  
  
  
At presentation
 21.3 ± 12.8
 20.1 ± 12.0
 24.2 ± 14.0
 17.3 ± 10.9
 18.9 ± 12.3
 14.6 ± 12.4
 18.6 ± 11.4
 25.3 ± 11.9
At misdiagnosis
 23.4 ± 12.5
 20.2 ± 11.0
 27.7 ± 13.6
 19.7 ± 10.5
  
  
  
  
At final diagnosis
 27.6 ± 12.6*
 24.9 ± 12.0
 31.6 ± 13.5*
 24.0 ± 10.2
 22.0 ± 11.2
 19.4 ± 10.3
 21.4 ± 11.8
 26.8 ± 10.5
Clinical manifestation
  
  
  
  
  
  
  
  
 Hematuria alone
 5
 0
 5
 0
 7
 0
 7
 0
 With proteinuria (>0.4 g/day)
 17
 4
 6
 7
 18
 4
 10
 4
 With hypoalbuminemia (<35 g/L)
 17
 6
 8
 3
 18
 9
 4
 5
 With CKD 3+ (eGFR <60 mL/min)
 12
 7
 4
 1
 9
 4
 2
 3
Specific diagnostic criteria
  
  
  
  
  
  
  
  
 Positive family history (proband)
 39
 13
 18
 8
 37
 11
 19
 7
 Renal/skin collagen
 30*b
 14
 11*
 5*
 43
 16
 17
 10
 Electron microscopic changes
 30**c
 10
 9**
 11
 45
 12
 22
 11
 High tone deafness
 10*
 6*
 3
 1*
 24
 13
 4
 7
 Ocular defect
 11
 3
 5
 3
 6
 1
 1
 4
Non-specific diagnostic clues
  
  
  
  
  
  
  
  
 Glomerular sclerosis
 24
 9
 9
 6
 19
 8
 6
 5
 Interstitial foam cell
 30
 11
 9
 10
 31
 13
 10
 8
 Thickness of Bowman capsule
 45
 17
 17
 11
 46
 16
 18
 12
 Immunofluorescence paucity
 38
 14
 15
 9
 43
 16
 16
 11
 Progressive proteinuria
 37
 15
 11
 11
 35
 15
 10
 10
 Progressive hypoalbuminemia 28 12 9 7 18 10 2 6

amXLAS, male X-linked Alport syndrome; fXLAS, female X-linked Alport syndrome; ARAS, autosomal recessive Alport syndrome.

b Chi-squared test, p < 0.05.

c Chi-squared test, p < 0.01.