Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk

reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page Pseudohypoaldosteronism type (PHA) 1 is a rare disease with an incidence of 1:47 000 to 1:80 000. 1 The presentation may be confused with other neonatal endocrino-logical problems like congenital adrenal hyperplasia, hypoaldosteronism, and Barter syndrome. Type I PHA is further subdivided into 2 distinct entities. 2 The autoso-mal dominant trait (adPHA1) results from the mutations in the gene encoding mineralocorticoid receptor (NR3C2). 3 The clinical course is mild and is restricted to kidneys. Prognosis for adPHA1 form is good and spontaneous remission is observed over time. The autosomal recessive trait (arPHA1) results from mutations of the genes (SCNN1A, SCNN1B, and SCNN1G) encoding the 3 homologous alpha beta gamma subunits of the amiloride-sensitive epithelial sodium channel (ENaC). 4 This causes loss of function or a decrease in ENaC channel activity. 4 The arPHA1 not only affects kidneys but also affects colon, lung, sweat, and salivary glands. 4 Patients with arPHA1 are reported to have recurrent pulmonary infections with pseudomonas species similar to those seen in cystic fibrosis. A 7-day-old male was admitted to the neonatal intensive care unit with a day history of poor feeding, reduced urine output, and lethargy. He was born normally after a term and uneventful pregnancy, and his birth weight was 3.3 kg. He was the second child of first-degree consan-guineous parents who emigrated from Southeast Asia. There was no family history of significant illness or unexplained death. On physical examination, he was pale, lethargic, and severely dehydrated. The rest of his systemic examination was unremarkable with normal male external geni-talia. He was tachycardic and with normal blood pressure. Electrocardiogram showed wide complex ven-tricular tachycardia, which resolved after fluid resuscitation and a dose of epinephrine. Initial labs were serum sodium 127 mEq/L, serum potassium 9.3 mEq/L, serum chloride 103 mmol/L, blood urea nitrogen 25 mg/dL, and creatinine 0.53 mg/ dL; capillary blood gas: pH 7.27, PCO 2 39.7 mm Hg, HCO 3 17.7 mEq/L, base deficit −8.5 mEq/L. Newborn screen showed normal 17-OH progesterone level. Urine sodium was 439 mmol/L, and urine potassium was <2.5 mmol/L. Further laboratory studies subsequently revealed markedly elevated plasma renin (56.32 ng/ mL/h; normal range = 0.25-5.82) and serum aldosterone (323 ng/dL; 1-12 months = 2-70 ng/dL). Serum cortisol (AM), ACTH, and 17-OH progesterone were within normal …