Monogenic Forms of Low-Renin Hypertension

Vesna D Garovic; Anthony A Hilliard; Stephen T Turner

Disclosures

Nat Clin Pract Nephrol. 2006;2(11):624-630. 

In This Article

Conclusion

In monogenic hypertensive disorders, three distinct mechanisms leading to the common final pathway of increased sodium reabsorption, volume expansion and low plasma renin activity are recognized. The first mechanism relates to mutations in and consequent hyperactivity of sodium and chloride transporters, or of mineralocorticoid receptors that can mimic a state of mineralocorticoid excess, leading to hypertension (e.g. Liddle syndrome, Gordon's syndrome, activating MCR mutation in hypertension exacerbated by pregnancy). The second mechanism involves deficiencies of enzymes that regulate adrenal steroid synthesis and activity, resulting in a build-up of precursors with potent mineralocorticoid activity and consequent hypertension (e.g. CAH, syndrome of apparent mineralocorticoid excess). Increased rates of sodium and water reabsorption leading to plasma volume expansion, hypertension and suppression of both renin and aldosterone levels are common to these two mechanisms. By contrast, the third mechanism is characterized by excessive aldosterone synthesis that escapes normal regulatory mechanisms, and gives rise to volume-dependent hypertension that, in turn, suppresses renin release (FH-I and FH-II). Hormonal studies coupled with genetic testing can help in the early diagnosis of these disorders ( Table 1 ). Treatment strategies aim to correct the underlying defect and, for most of these disorders, are readily available and successful.


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