Pseudohypoaldosteronism: A challenging diagnosis with management pitfalls - Case series

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 patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management. We admitted 4 cases in our institution between 2017-2021.They presented with variable symptoms of vomiting, poor feeding, weight loss, dehydration, and fever. In addition, they all had profound hyperkalemia reaching 10- 11 meq\L and significant hyponatremia reaching 129 meq\L. Case one and four both showed initial normal levels of serum aldosterone that were found to be high after dilution of the samples. During follow-up periods of 31 months to 4 years, all of these patients required regular adjustment of kayexalate, sodium chloride and sodium bicarbonate doses according to weight changes to keep a normal serum sodium level and a potassium level below 5.5 meq\L. 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 follow-up to ensure monitoring, dose adjustment and early detection of electrolytes' imbalance. 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.