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Table 6 Summary of inherited tubulopathy results in the present study

From: Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

Study results ITIKD iRHUC
Prevalence 40/65 (61.5%) 25/65 (38.4%)
Age (years)
 Mean age ± SD 25.29 ± 14.69 18.83 ± 10.59
 Male 21 ± 10.21 18.46 ± 10.36
 Female 29.17 ± 16.87 20.01± 11.22
 p-value: 0.07 0.78
Sex
 Male 47.5% 76%
 Female 52.5% 24%
Symptoms
 Not mentioned 50%  
 Gouty attacks 20%  
 Asymptomatic 15%  
 Loin pain   36%
 EI-AKI   40%
 Abdominal pain   32%
 Vomiting   28%
 Decreased urine volume   12%
 Nausea   12%
 Stone passage   8%
Signs
 Not mentioned 37.5% 12%
 Normal physical examination 27.5% 12%
 Oliguria   8%
 Tophi with whitish discharge 5%  
 Costovertebral angle tenderness   16%
Laboratory data
 sUA > 6 in male and > 7 mg/dl in female 77.5%  
  Mean ± SD   
  sUA ≥ 5.5 mg/dl 9.55 ± 2.55 mg/dl  
  sUA< 2 mg/dl   0.91 ± 0.5 mg/dl
  SCr (mg/dl) 2.14 ± 1.77 mg/dl 3.58 ± 2.52 mg/dl
 eGFR
  Stage 0 & I   
  Stage II 7.5% 4%
  Stage IIIa 7.5%  
  Stage IIIb 2.5%  
  Stage IV 5% 4%
 Hb (Mean±SD) 9.75 ± 1.45 g/dl 12.5 ± 0.29 g/dl
 FEUA (Mean±SD) 4.25 ± 1.47 % 87.22 ± 73.2 %
 Serum Bun (Mean±SD) 81.41 ± 47 mg/dl 79.7 ± 50.08 mg/dl
 Proteinuria (Mean±SD) 810.33 ± 356.8 mg/day 62.96 ± 702.15 ± 97.85 mg/day
Genetic testing
 UMOD
  Heterozygous 75%  
  Homozygous 5%  
  Compound HTZ   
  Not mentioned 20%  
 Mutation   
  Missense 60%  
  Nonsense 2.5%  
 Deletion   
 Exon region
  Exon 4 35%  
  Exon 5 32.5%  
  Exon 3 12.5%  
 Race
  Italian 27.5%  
  Hungary 10%  
  Japanese 7.5%  
  German 7.5%  
 URAT1 (SLC22A12)   
 Prevalence   16/25 (64%)
   Homozygous   8/16 (50%)
   HTZ   4/16 (25%)
   Compound HTZ   4/16 (25%)
 Mutation
  Missense   3/16 (18.7%)
  Deletion   3/16, (18.7%)
  Nonsense   2/16 (12.5%)
  ?Partial deletion   6.25%
  Male   13/16 (81.2%)
  Female   3/16 (18.7%)
 Exon region
  Exon 3, 7   12 %
  cExon 1, 4, 5   8 %
  Exon 8, 9, 11   4 %
  sUA< 1 mg/dl   4/16 (25%)
  EI-AKI   7/16 (43.7%)
  Nephrolithiasis   12.5%
 Race
  Czech Republic   4/16 (25%)
  Japanese   4/16 (25%)
  Korean   3/16 (18.7%)
 GLUT9 (SLC2A9)
  Prevalence   8/25 (32%)
   Homozygous   6/8 (75%)
   Heterozygous   1/8 (12.5%)
   Compound heterozygous   1/8 (12.5%)
 Mutation   -
  Missense   3/8 (37.5%)
  Nonsense   5/8 (25%)
 Exon region
  Exon 3   3/8 (37.5%)
  Exon 5   2/8 (25%)
  Exon 7,11   1/8 (12.5%)
 Race
  Czech   4/8 (50%)
  Chinese   1/8 (12.5%)
  Pakistani   1/8 (12.5%)
  Caucasian   1/8 (12.5%)
 Chromosomal analysis
  48 XXYY   1/25 (4%)
  Gene analysis   NA
 Imaging Renal US
  Small-sized 45%  
  Nl-sized kidney   32%
  Renal cyst 30%  
Pathology   
 ATN   4%
 ATI   8%
 Paranchymal damage 2.5%  
 Interstitial edema   8%
 Tubular atrophy 25%  
 Interstitial fibrosis 30%  
 Tubulointerstitial lesion (moderate)   4%
Treatment
 Allopurinol 30% 4%
 Benzbroamaron and colchicine 2.5%  
 RRT 7.5%  
sUA levels before & after treatment
 Mean±SD 6.19 ± 1.15 and 0.54 ± 0.23 mg/dl  
SCr levels before and after (mg/dl)
 Mean±SD 2.25 ± 0.48 and 1.93 ± 2.33 mg/dl  
Outcome
 ESKD 20% 4%
 TIF 30%  
 TIL 2.5% 4%
 Proteinuria   
 Nephrolithiasis   8.3%
Follow/UP
 Mean time of initial sUA after treatment 24.66 ± 22.89 months 15.25 ± 8.85 months
 Median 10 months 13 months
  1. ATI acute tubular injury, ATN acute tubular necrosis, eGFR estimated glomerular filtration rate, EI-AKI exercise-induced acute kidney injury, ESKD end-stage kidney disease, FEUA fractional excretion of uric acid, IRH idiopathic renal hypouricemia, ITIKD inherited tubulointerstitial kidney disease, NA, not available, RRT renal replacement therapy, SCr serum creatinine, SD standard deviation, TIF tubulointerstitial fibrosis, TIL tubulointerstitial lesion