Table 6.
Characteristics of patients according to genotype severity
| Variable | PL/CL or PL/PL | CL/CL | P Value |
|---|---|---|---|
| n=29 | n=56 | ||
| Clinical presentation, % | <0.001 | ||
| ABS/NBS | 13.8 | 41.1 | |
| CBS | 51.7 | 42.9 | |
| GLS | 34.5 | 16.1 | |
| Age at diagnosis, yr | 7.5 (0.7–36)1 | 0.6 (0.1–6.2)4 | <0.001 |
| GA at birth, wk | 40 (39.8–40)12 | 40 (37–40)11 | 0.42 |
| Plasma, n values | |||
| Sodium, 133–146 mmol/L | 136 (129–140)15 | 134 (130–137)24 | nd |
| Potassium, 3.5–5 mmol/L | 2.8 (2.3–3.0)8 | 2.7 (2.3–3.0)8 | 0.94 |
| Chloride, 90–117 mmol/L | 94 (83–97)16 | 89 (75–95)20 | nd |
| CO2t, 18–25 mmol/L | 33 (30–35)12 | 32 (28–37)15 | 0.73 |
| Calcemia, 2.2–2.6 mmol/L | 2.5 (2.4–2.8)16 | 2.6 (2.4–2.7)21 | nd |
| Magnesemia, 0.75–1 mmol/L | 0.84 (0.77–1.00)11 | 0.91 (0.82–1.00)28 | 0.4 |
| Renina | 3 (2–24)15 | 8 (2–19)24 | 0.43 |
CL: large deletions, truncating (unless carboxy-terminal), essential splicing, missense nonconducting, and mutants with residual currents <20%. PL: missense mutants with residual currents >21%. Values are expressed as medians and interquartile intervals. Superscript values correspond to the number of missing data. The P values for continuous variables are for comparisons of the two groups with the Mann–Whitney U test. The P values for dichotomous variables were determined in chi-squared tests or Fisher test as appropriate. nd, not done (>50% of the data missing in one or more groups), CO2t, total carbon dioxide.
a
Times the normal upper limit for age.