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Mendelian disorders causing hypertension 

Mendelian disorders causing hypertension

Mendelian disorders causing hypertension

Nilesh J. Samani

and Maciej Tomaszewski



Expanded discussion of the mechanism of pseudohypoaldosteronism type 2 (Gordon’s syndrome), including its cause by mutations in novel genes.

Updated on 27 Nov 2014. The previous version of this content can be found here.
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date: 29 April 2017

Several mendelian disorders with hypertension as the predominant manifestation have been characterized at the molecular level. Features that may suggest one of these very rare conditions include a young age of onset, moderate to severe hypertension, strong family history, consanguinity (for the autosomal recessive disorders), and electrolyte abnormalities, particularly of potassium (although this is not invariable).

Glucocorticoid-remediable aldosteronism—an autosomal dominant condition caused by a chimeric gene where the regulatory elements of the 11β‎-hydroxylase gene become attached to the coding region of aldosterone synthase. Hypertension responds to a low daily dose of exogenous glucocorticoid.

Apparent mineralocorticoid excess—an autosomal recessive disorder caused by mutations causing loss of function in the type 2 11β‎-hydroxysteroid dehydrogenase gene that normally inactivates cortisol in the kidney and prevents it binding to the mineralocorticoid receptor. The hypertension responds to spironolactone or amiloride.

Liddle’s syndrome—an autosomal dominant condition, caused by activating mutations in the WNK1 or WNK4 serine-threonine kinases genes, the Kelch-like 3 (KLHL3) gene or the cullin 3 (CUL3) gene. These genes regulate salt reabsorption by the Na-Cl cotransporter (SLC12A3) and the linked process of potassium secretion by the renal outer medullary potassium channel (ROMK). The hypertension and physiological abnormalities are corrected by thiazide diuretics.

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