Whitney Marvin, MD
Dr.
MUSC Health of Medical University of South Carolina, United States
Disclosure information not submitted.
Katherine Twombley, n/a
Dr.
MUSC Health of Medical University of South Carolina, United States
Disclosure information not submitted.
Title: Pseudohypoaldosteronism in a Neonate, Transient or Not?
Case Report Body:
Introduction: Pseudohypoaldosteronism (PHA) is a rare but critical disorder that can occur during the neonatal period. We present a case of PHA that was initially presumed to be transient secondary to a urinary tract infection (UTI) that resulted in a repeat life-threatening episode of hyperkalemia that could have been avoided by earlier genetic testing.
Description: An 8-day old full term male presented with feeding difficulties, hypotonia, and lethargy. On arrival, he was hemodynamically stable but hypothermic at 34.3°C with cool extremities. His venous blood gas was significant for a pH of 7.16, bicarbonate of 17 mmol/L, sodium of 120 mmol/L, potassium of >9.0 mmol/L, and a lactate of 6.73 mmol/L. An electrocardiogram (ECG) revealed only sinus tachycardia. His hyperkalemia was treated, a full infectious workup was obtained, antibiotics were started, and he was admitted to the intensive care unit. Newborn screen was normal, ruling out congenital adrenal hyperplasia. On HD 2 his urine culture returned positive for 1,000-10,000 colony forming units of Escherichia coli while other infectious workup remained negative. His UTI was treated with antibiotics, and a renal ultrasound and voiding cystourethrogram were done and normal. He required significant treatment for his hyperkalemia initially, which improved throughout his course. A presumptive diagnosis of transient PHA in a neonate was made given the presence of a UTI, and genetic testing was deferred until just prior to discharge. He was sent home on decanted feeds with kayexalate in addition to sodium supplements. A few weeks after his initial presentation, his kayexalate was discontinued by nephrology, following which he again had an episode of lethargy and emesis prior to follow-up labs. He re-presented to the hospital with a potassium of 10.0 mmol/L. His electrolyte dyscrasias were again treated, and he was restarted on potassium sparing therapies. Shortly after the second discharge, his genetic testing resulted with an autosomal recessive pseudohypoaldosteronism type I defect.
Discussion: This report will review the differential diagnosis of hyperkalemia and typical presentation of PHA and strongly suggest that early genetic testing be considered given the life threatening complications that can occur with repeat episodes of metabolic crisis.