Research Article
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria
Table 3
Phenotypes of PH1 patients with hotspot homozygous mutations, hotspot heterozygous mutations, and nonhotspot mutations.
| | Variables | c.33dup homozygote | c.33dup heterozygote | c.815_816insGA homozygote | c.815_816insGA heterozygote | Nonhotspot mutations | | | () | () | () | () | () |
| | Age of onset (years) | 7 (6, 8) | 5 (3, 10) | 1 | 5 (0.6, 11) | 4 (0.3, 9) | 0.622 | | () | () | () | () | () | | Nephrocalcinosis (%) | 100% | 75.00% | 100% | 100% | 28.57% | 0.678 | | () | () | () | () | () | | eGFR (ml/min/1.73 m2) | | | 116.33 | | | 0.014 | | () | () | () | () | () | | Urine oxalate/creatinine (μg/mg) () | ND | | 1118.69 | | | 0.203 | | () | () | () | () | () | | Urine calcium/creatinine (mmol/mmol) () | ND | 0.06 | 0.27 | 0.08 (0.06, 0.16) | 0.32 (0.12, 1.13) | 0.058 | | () | () | () | () | () | | Urine citrate/creatinine (μg/mg) () | 70.33 | 156.32 | 502.38 | 83.63 (48.79, 99.98) | 95.71 (66.10, 302.32) | 0.420 | | () | () | () | () | () |
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Abbreviations: nL: normal limit; eGFR: estimated glomerular filtration rate; ND: not detected. . |
