Revelation of Gordon Syndrome: A Case of Persistent Hyperkalemia

We present the case of a 14-year-old male with a novel diagnosis of Gordon's syndrome (GS, pseudohypoaldosteronism type 2), notable for its atypical presentation in the absence of hypertension. The patient exhibited persistent hyperkalemia, metabolic acidosis, and normotension, prompting genetic testing that identified a heterozygous mutation in the WNK1 gene. Subsequent evaluation of the patient's father, who had no history of hypertension but demonstrated similar biochemical abnormalities, revealed the same genetic variant, confirming the diagnosis in both individuals. The lack of hypertension in both cases deviates from the classic phenotype of GS. Treatment with low-dose thiazide diuretics led to gradual correction of the electrolyte disturbances, supporting the diagnosis and highlighting phenotypic variability within this rare condition.