Abstrakt
A two-year-old girl with an unremarkable family history was transferred to our tertiary care centre showcasing a severe dyselectrolytemia and a suspicion of tubulopathy. She was born to healthy nonconsanguienous parents at 35 weeks of gestation from dizygotic twins with birth weight of 2,550 g, polyhydramnios was not reported.
One week prior to her admission to our department, she exhibited symptoms of acute upper respiratory tract infection and was admitted to the local hospital. Her physical examination showed mild dehydration, general muscle weakness, significantly reduced spontaneous physical activity and feeding difficulties initially attributed to an electrolyte imbalance.
Laboratory examination revealed severe hypokalemia (2.1 mmol/L), hypernatremia (154.9 mmol/L), hypochloremia (91.0 mmol/L) and metabolic alkalosis (pH 7.6, bicarbonate 31.0 mmol/L). Both plasmatic renin and aldosterone were high: 643.5 ng/L and 5.9 nmol/L, respectively.