PSEUDOHYPOALDOSTERONISM TYPE I IN PATIENT ADMITTED WITH NEONATAL ABSTINENCE SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE

Abstract

Pseudohypoaldosteronism (PHA) type 1 is a rare genetic disorder affecting one in 47,000-80,000 newborns. An autosomal dominant type which is restricted to the kidney (also known as rPHA1) and an autosomal recessive type which is more severe and presents with systemic symptoms were reported. A 3-h-old male infant was admitted to the neonatology ward due to high pitch cries, jitteriness, mild tremors, and excessive sleep with a positive history of maternal addiction. For the 1st time, after 9 days, the infant developed hyperkalemia (7 mEq/L) with mixed respiratory alkalosis, and metabolic acidosis (PH: 7.42, Pco2: 22 mm-Hg, Hco3: 12 mmol/L) and blood pressures of 84/44 mm-Hg were recorded. Even after initial treatment, once again the patient developed hyperkalemia resistant to therapy. Hyponatremia was also noted. Hormonal assays were collected, and congenital adrenal hyperplasia (a common differential diagnosis in neonatal hyperkalemia) was ruled out. Elevated renin and aldosterone levels were reported. On the 20th day, hyperkalemia-induced cardiac arrhythmia was demonstrated in the 2nd lead (K+ - 7.5 mEq/L). We report that this case as PHA type 1 is the rare but life-threatening cause of neonatal hyperkalemia. Initial therapy can prevent the possible occurrence of sudden death. Key words: Hyperkalemia, Hypernatremia, Neonate, Pseudohypoaldosteronism type 1