A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.

Abstract

Learning points for clinicians Consider a monogenic cause of hypertension in young people with a similar family history or associated electrolyte disturbance. Gordon syndrome classically presents with hyperkalemia, hypertension, metabolic acidosis in the presence of normal renal function and suppressed plasma renin activity. Patients are exquisitely sensitive to salt-restriction and low-dose thiazide diuretics. An 18-year-old man with no prior medical history presented with an incidental finding of serum K+ of 7.3 mmol/l. This was confirmed on repeat measurements and there was no evidence of haemolysis. He took no regular medications or supplements. His mother, maternal uncle and grandmother also had a history of early hypertension and unexplained hyperkalemia. On examination: he was hypertensive at 150/90 mmHg. Twelve-lead electrocardiograph revealed voltage criteria for left ventricular hypertrophy along with tall, tented T-waves. Urinalysis was normal. Laboratory tests showed serum Na+ …