Genotype/phenotype correlation in FHHNC
| Genotype | CL (n = 23) | PL (n = 46) | P |
|---|---|---|---|
| Age at onset (yr; mean [95% CI]) | 2.2 (1.1 to 3.3) | 5.6 (3.6 to 7.0) | <0.01 |
| Loss of GFR/yr (ml/min per 1.73 m2; mean [95% CI]) | 7.3 (5.0 to 9.6) | 2.9 (1.8 to 4.3) | <0.01 |
| Renal function at end of study | <0.01 | ||
| GFR >60 ml/min per 1.73 m2 | 9% (2/22) | 54% (25/46) | |
| GFR <60 ml/min per 1.73 m2 | 50% (11/22) | 20% (9/46) | |
| ESRD | 41% (9/22) | 26% (12/46) | |
| ESRD at 15 yr | 54% (7/13) | 20% (6/30) | <0.05 |
| ESRD at 20 yr | 70% (7/10) | 25% (8/20) | NS |
| Lowest serum Mg (mmol/L; mean [95% CI]) | 0.40 (0.35 to 0.45) | 0.41 (0.38 to 0.45) | NS |
| Urinary Mg excretion (μ mol/kg per d; mean [95% CI]) | 188 (92 to 283) | 153 (123 to 183) | NS |
| Lowest serum Ca (mmol/L; mean [95% CI]) | 2.11 (1.96 to 2.27) | 2.17 (2.1 to 2.25) | NS |
| Urinary Ca excretion (μ mol/kg per d; mean [95% CI]) | 314 (181 to 446) | 200 (168 to 233) | <0.01 |
| Urinary Ca/creatinine (mol/mol; mean [95% CI]) | 2.46 (1.37 to 3.55) | 1.52 (1.26 to 1.79) | <0.05 |
| Intact PTH (pg/ml; mean [95% CI]) | 249 (122 to 376) | 169 (117 to 220) | NS |
| Follow-up time (yr; mean [95% CI]) | 13.4 (9.2 to 17.6) | 11.9 (9.2 to 14.7) | NS |