Research Article
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria
Table 4
Phenotypes of PH3 patients with and without exon 6 skipping.
| | Variables | Homozygous exon 6 skipping | Heterozygous exon 6 skipping | No exon 6 skipping variants | | | () | () | () |
| | Age of onset (years) | 1.5 (0.4, 6) | 0.7 (0.6, 0.8) | 1.25 (0.4, 5.0) | 0.494 | | () | () | () | | Nephrocalcinosis (%) | 14.29% | 50.00% | 16.67% | 0.479 | | () | () | () | | eGFR (ml/min/1.73 m2) | 99.94 (93.50, 167.02) | 70.11 (60.84, 79.66) | 102.48 (55.95, 130.96) | 0.050 | | () | () | () | | Urine oxalate/creatinine (μg/mg) () | 515.88 (110.08, 1205.59) | 272.77(124.27, 906.77) | 249.13 (18.57, 1470.16) | 0.577 | | () | () | () | | Urine calcium/creatinine (mmol/mmol) () | 0.32 (0.14, 1.16) | 0.27 (0.13, 1.30) | 0.50 (0.12, 2.43) | 0.920 | | () | () | () | | Urine citrate/creatinine (μg/mg) () | 297.93(140.61, 518.25) | 136.07 (46.61, 252.97) | 148.76 (89.76, 654.4) | 0.096 | | () | () | () | | Stone recurrence (%) | 28.57% | 25.00% | 16.67% | 1.000 | | () | () | () |
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Abbreviations: nL: normal limit; eGFR: estimated glomerular filtration rate. . |
