Case Report: Challenges in the diagnosis of pseudohypoaldosteronism: insights from a resource-limited setting

Pseudo-hypoaldosteronism type 1 (PHA1) is a hereditary condition characterized by end-organ resistance to aldosterone, resulting in electrolyte imbalance, metabolic acidosis, and hyperaldosteronism. It is inherited in an autosomal dominant renal or an autosomal recessive systemic form. Here, we report a case series of PHA1, highlighting its challenging diagnosis and underscoring the complexities involved in reaching an accurate diagnosis in a resource-limited setting.

Seven patients from seven unrelated Sudanese families were admitted to pediatric endocrinology units at Gaffer Ibn Auf (GIA) Children's Teaching Hospital in Khartoum, Sudan, between 2010 and 2023, with an initial suspected diagnosis of gastroenteritis or Congenital adrenal hyperplasia (CAH). The age of presentation varied significantly between patients (4-120 days). Failure to thrive and dehydration were the most common presenting symptoms, and one patient was initially misdiagnosed due to prominent respiratory symptoms. Consanguinity was reported in 4 families, and three patients had a family history of neonatal fatalities with a similar presentation. Initial electrolyte abnormalities showed low serum sodium, elevated potassium, and metabolic acidosis, which initially pointed to CAH diagnosis. However, normal cortisol and Adrenocorticotropic hormone (ACTH) levels indicated the need to consider alternative diagnoses, and high aldosterone and renin levels suggested a PHA1 diagnosis confirmed by genetic testing in three patients that revealed mutations in SCNNA, B, and G subunits.

The diagnosis of PHA1 is challenging in Sudan, where the clinical and biochemical features can mimic other common conditions contributing to its delayed diagnosis. Failure to respond to initial glucocorticoid (GC) therapy prompted a consideration of other alternative diagnoses, including PHA1, especially in settings where access to advanced facilities for diagnostic confirmation is limited.