Table 6.

Characteristics of patients according to genotype severity

VariablePL/CL or PL/PLCL/CLP Value
n=29n=56
Clinical presentation, %<0.001
 ABS/NBS13.841.1
 CBS51.742.9
 GLS34.516.1
Age at diagnosis, yr7.5 (0.7–36)10.6 (0.1–6.2)4<0.001
GA at birth, wk40 (39.8–40)1240 (37–40)110.42
Plasma, n values
 Sodium, 133–146 mmol/L136 (129–140)15134 (130–137)24nd
 Potassium, 3.5–5 mmol/L2.8 (2.3–3.0)82.7 (2.3–3.0)80.94
 Chloride, 90–117 mmol/L94 (83–97)1689 (75–95)20nd
 CO2t, 18–25 mmol/L33 (30–35)1232 (28–37)150.73
 Calcemia, 2.2–2.6 mmol/L2.5 (2.4–2.8)162.6 (2.4–2.7)21nd
 Magnesemia, 0.75–1 mmol/L0.84 (0.77–1.00)110.91 (0.82–1.00)280.4
 Renina3 (2–24)158 (2–19)240.43
  • 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.