Case Report: Challenges in the diagnosis of pseudohypoaldosteronism: insights from a resource-limited setting
Abstract
Background 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. Case report 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…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Patient-Centered Pharmaceutical Design to Improve Acceptability of Medicines: Similarities and Differences in Paediatric and Geriatric Populations
- Evidence-based clinical practice guidelines for irritable bowel syndrome 2020
- Phase 2b Study of Pimodivir (JNJ-63623872) as Monotherapy or in Combination With Oseltamivir for Treatment of Acute Uncomplicated Seasonal Influenza A: TOPAZ Trial
- Gastrointestinal manifestations in COVID-19
- COVID-19 and Gastrointestinal Disease: Implications for the Gastroenterologist
- Persistent gut barrier damage and commensal bacterial influx following eradication of Giardia infection in mice
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.