The Research Progress of Monogenic Inherited Hypertension

Abstract

Monogenic inherited hypertension, which is caused by a single gene mutation, generally conforms to the Mendel's law, but its phenotype is affected by environmental factors as well. This type of hypertension is characterized by early onset (more common in adolescents), family history, severe hypertension, or refractory hypertension. It is often accompanied by abnormal hormone level and biochemical indicators, including low activity of plasma renin, abnormal potassium, and acidbase metabolization disorder. For adolescents with a family history of moderate to severe hypertension, hormone level (including plasma renin-angiotensin-aldosterone, cortisol, and sex hormone) and blood electrolytes should be measured and the detailed diagnosis should be determined according to medical history, physical signs, and test results. Currently, 17 kinds of monogenic hereditary hypertension have been clearly determined. Thanks to the development of gene detection technology, the diagnostic level of monogenic inherited hypertension has greatly improved and the pathogenesis has been gradually clarified. Our review mainly discussed the research progress in this field.

Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation

“…Excluding other causes leading to hypertension, LS should be considered in all cases of early-onset hypertension, irrespectively of hypokalemia, low renin levels, and family history. Genetic screening should be recommended for first-degree relatives of patients with LS to identify more mutation carriers in the family [32].…”