Table 6 Summary of inherited tubulopathy results in the present study
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 | Â | Â |
 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 |