A rare cause of hypertension in childhood: Questions

Excerpt

A 14-month-old girl was admitted to the pediatric emergency unit for vomiting, fatigue, and frequent urination. She had increased urine volume (2–3 l/day). She was born at 38th gestational week (GW) with a birth weight of 1660 g (− 3.5 SDS). Her mother had no history of oligo/polyhydramnios or hypertension during pregnancy. Parents were first-degree cousins and her brother was followed with Bartter syndrome in a different hospital. At presentation, her weight and height were 7650 g (− 2.0 SDS) and 72.0 cm (− 1.8 SDS), respectively. She was tachycardiac with decreased turgor. Cardiac and abdominal examination was unremarkable. Hypokalemia (serum potassium 2.1 mmol/L; N 3.5–5.1), metabolic alkalosis (pH 7.52, HCO₃ 34.5 mmol/L, chloride 99 mmol/L; N 98–107), hyposthenuria with normal renal function was detected at her initial evaluation in the emergency unit. She also had mild hypermagnesemia (1.09 mmol/L; N 0.62–0.95). Intravenous (IV) fluid-electrolyte replacement and indomethacin were commenced. During follow-up, she was found to be hypertensive (blood pressure, BP, 140/90 mmHg, > 99th percentile for age, gender, and height). Auscultatory blood pressure measurement was performed periodically and persistent severe hypertension was demonstrated. Fundoscopic examination was normal. Left ventricular hypertrophy was detected on echocardiography. Hypercalciuria with medullary nephrocalcinosis was detected. Antihypertensive treatment (ACE inhibitor) was added to the treatment. Serum aldosterone (8.64 pg/mL; N 13.3–231.4) and renin (< 0.1 pg/mL; N 0.1–25.5) concentrations were low. Antihypertensive treatment was changed to spironolactone which effectively controlled her hypertension. …