ESPE Abstracts

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.

Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days old males, and case two was 40 days old female. They presented with variable symptoms of vomiting, poor feeding, weight loss, dehydration, and fever. In addition, they all had profound hyperkalemia reaching 10- 11 mmol/l and significanthyponatremia reaching levels of 129 mmol/l. Case one and four both showed initial normal levels of serum aldosteronethat were found to be high after dilution of the samples. During follow-up periods of of 31 months to 4 years, all of these patients required regular adjustment of kayexalate, sodium chloride and sodium bicarbonate doses with weight changes to keep a normal serum sodium level and a potassium level below 5.5 mmol/l.

Discussion: Our patients’ series demonstrates challenges that may face physicians during PHA management. PHA mimics CAH in clinical and biochemical presentation. Also, there are technical issues regarding the accuracy of serum aldosterone measurement. Moreover, the use of a potassium chelating agent requires careful and close follow up for optimization of doses to avoid life threatening hyperkalemia. This requires frequent initial follow-up visits to ensure monitoring, dose adjustment and early detection of electrolytes’ imbalances when these patients grow out of their doses.

Conclusion: PHA can be associated with a delay in diagnosis and early start of management. An optimal use and adjustment of medications is critical for rapidly growing young children.