Table 1.
Laboratory findings in the patient
| Normal values | Day 2 | Day 7 | Day 40 | |
|---|---|---|---|---|
| Na (mmol/L) | 135–145 | 141 | 123 | 145 |
| K (mmol/L) | 3.5–4.5 | 5.1 | 9 | 4.4 |
| HCO3 (mmol/L) | 20–28 | 22 | 17 | 23 |
| Urine Na (mmol/L) | 69 | 265 | ||
| Urine K (mmol/L) | 2.6 | <2 | ||
| Cortisol (mcg/dL) | 2–11 | 12.7 | ||
| 17-OH progesterone (ng/dL) | 11–170 | 20 | ||
| Plasma renin activation (ng/mL/h) | 2–35 | 93.96 | ||
| Aldosterone (ng/dL) | <217 | 587.6 | ||
| Sweat chloride (<29 mmol/L) | <29 | 104; 118 on repeat |
Day 7 of life represents the age of presentation. On day 40, the infant started to have respiratory difficulty, despite normalization of electrolytes. The multisystem form of PHA was genetically confirmed shortly after.