Rare form of familial hypertension. Syndrome is
characterized by hyperkalemia, metabolic acidosis, suppressed plasma renin
activity, and hyperchloremia, but no renal failure. Positive effects of
thiazide diuretics are associated.
Hypertensive Hyperkalemia; Familial Hyperpotassemia and
Hypertension Pseudohypoaldosteronism Type II; PHA II.
Genetic disorder first described by Paver and Pauline in
1964 and singularized by Gordon in 1970.
Transmitted as an autosomal dominant trait, but
Caused by mutations in WNK4 (a serine-threonine protein kinase)
(17q21) or WNK1 (a lysine deficient protein kinase) (12p).
An additional locus is probably located on 1q. A resistance to aldosterone
regarding potassium, but not sodium transport, and a generalized cellular
defect in transmembrane potassium transport, has been evocated to explain
Based on the clinical findings (hyperkalemia, metabolic
acidosis, absent plasma renin activity, hyperchloremia) in a patient with
hypertension, already presenting in childhood.
Besides the main features, muscular weakness and
periodic paralysis have been described.
Evaluate renal function and
electrolytes. Arterial blood gas analysis can be useful. Evaluate cardiac
function because of hypertension and hyperkalemia (clinical, ECG,
echocardiography). Check for signs of muscle weakness.
Perioperative cardiac monitoring
(including invasive arterial blood pressure measurement if necessary) has to be
considered. Hyperkalemia has to be corrected before surgery. Central
regional anesthesia should be considered.
Both insulin and bicarbonates have no
effect on hyperkalemia. Thiazide diuretics can treat main features.
Potassium-free intravenous solutions with reduced sodium concentration might be preferable.
Gereda JE, Bonilla-Felix M, Kalil B, et al: Neonatal presentation of
Gordon syndrome. J Pediatr
Mansfield TA, Simon DB, Farfel Z, et al: Multilocus linkage of familial
hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to
chromosomes 1q31-42 and 17p11-q21. Nat Genet