Pakistan journal of medical sciences · 2026
Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tariq Hamid Bin, Saeed Suleman, Arslan Ahmed, Batool Saima
Аннотация
UNLABELLED: Pseudo hypoaldosteronism (PHA) and congenital adrenal hyperplasia (CAH) can present with similar biochemical abnormalities in neonates, making early diagnosis challenging. We report a neonate who presented with hyponatremia, hyperkalemia, and metabolic acidosis and was initially managed as CAH with steroid therapy.
OUTCOME: Despite treatment, the electrolyte abnormalities persisted, prompting further evaluation. Genetic testing revealed a homozygous pathogenic mutation in SCNN1B, confirming autosomal recessive PHA Type I-B.
CONCLUSION: Persistent electrolyte derangements despite appropriate steroid therapy should raise suspicion for PHA. Early genetic testing is essential for accurate diagnosis and targeted management in neonates with overlapping presentations of CAH and PHA.
OUTCOME: Despite treatment, the electrolyte abnormalities persisted, prompting further evaluation. Genetic testing revealed a homozygous pathogenic mutation in SCNN1B, confirming autosomal recessive PHA Type I-B.
CONCLUSION: Persistent electrolyte derangements despite appropriate steroid therapy should raise suspicion for PHA. Early genetic testing is essential for accurate diagnosis and targeted management in neonates with overlapping presentations of CAH and PHA.