A RARE CAUSE OF NEONATAL SALT WASTING: CLINICAL MANAGEMENT OF A CASE WITH PSEUDOHYPOALDOSTERONISM DETECTED WITH A NOVEL HOMOZYGOUS VARIANT IN THE SCNN1A GENE
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Introduction: Pseudohypoaldosteronism (PHA) is a rare condition that can lead to life-threatening hyperkalemia, cardiac arrest and death if not rapidly recognised and treated. Systemic PHA results from the inactivation of variant... ...
