Chapter

Mendelian disorders causing hypertension

Nilesh J. Samani

in Oxford Textbook of Medicine

Fifth edition

Published on behalf of Oxford University Press

ISBN: 9780199204854
Published online May 2012 | e-ISBN: 9780199570973 | DOI: http://dx.doi.org/10.1093/med/9780199204854.003.161704

Series: Oxford Textbooks

Mendelian disorders causing hypertension

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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 genes encoding the β- or γ-subunits of the trimeric epithelial sodium channel. Hypertension responds to direct inhibitors triamterene or amiloride.

Pseudohypoaldosteronism type 2 (PHA2, Gordon’s syndrome)—an autosomal dominant condition, some cases of which are caused by mutations in serine-threonine kinases (WNK1 and WNK4) that 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.

Chapter.  2750 words.  Illustrated.

Subjects: Cardiovascular Medicine

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