Research Article
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria
Table 2
Phenotypes of PH1 patients with hotspot and nonhotspot mutations.
| | Variables | c.33dup group () | c.815_816insGA group () | Nonhotspot mutation group () | |
| | Age of onset (years) | 5.5 (3, 10) () | 4 (0.6, 11) () | 4 (0.3, 9) () | 0.558 | | Nephrocalcinosis (%) | 83.33% () | 100% () | 42.86% () | 0.027 | | eGFR (ml/min/1.73 m2) | () | () | () | 0.001 | | Urine oxalate/creatinine ratio (μg/mg) () | () | 6 () | () | 0.228 | | Urine calcium/creatinine ratio (mmol/mmol) () | 0.06 () | 0.08 (0.06, 0.27) () | 0.32 (0.12, 1.31) () | 0.058 | | Urine citrate/creatinine ratio (μg/mg) () | 113.33 (70.33, 156.32) () | 91.81 (48.79, 502.38) () | 95.71 (66.1, 302.32) () | 0.960 |
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Abbreviations: nL: normal limit; eGFR: estimated glomerular filtration rate. . |
