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Mendelian disorders causing hypertension 

Mendelian disorders causing hypertension
Mendelian disorders causing hypertension

Nilesh J. Samani

, and Maciej Tomaszewski

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date: 02 March 2021

Several rare mendelian disorders where hypertension is the predominant manifestation have been characterized at the molecular level. These include glucocorticoid-remediable aldosteronism, the syndrome of apparent mineralocorticoid excess, Liddle’s syndrome, and Gordon’s syndrome. Hypertension and hypokalaemia are features of 11β‎-hydroxylase and 17β‎-hydroxylase deficiency—two rare recessive gene disorders of adrenal steroid-synthesizing enzymes that, among others, cause congenital adrenal hyperplasia. 11β‎-Hydroxylase deficiency usually presents in infancy or early childhood with virilization of both sexes, while presentation of 17β‎-hydroxylase deficiency may be delayed until adolescence or adulthood. Hypertension due to a phaeochromocytoma may be a feature of multiple endocrine neoplasia type 2 (MEN2, Sipple’s syndrome), which when familial is inherited in an autosomal dominant pattern, or rarely to be a feature of neurofibromatosis (von Recklinghausen’s disease).

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