Adrenal-Related Endocrine Hypertension: From Genetic Causes to Clinical Impacts
1National University of Malaysia (UKM) Medical Centre, Kuala Lumpur, Malaysia
2Barts Health NHS Trust, London, UK
3Queen Mary University of London, London, UK
Adrenal-Related Endocrine Hypertension: From Genetic Causes to Clinical Impacts
Description
More than third of the adult population worldwide has hypertension, a key risk factor for cardiovascular diseases. Although the majority of hypertension cases are idiopathic, approximately sixth of hypertensive patients have secondary hypertension whereby an identifiable condition has led to the raised blood pressure. Of these, 2-3% are estimated to have so-called endocrine hypertension due to an imbalance of hormone production in the adrenal glands.
Diagnosis of adrenal-related endocrine hypertension is favorable as surgery and specific medical treatment are available. However, less than 1% of patients are currently diagnosed early enough to ensure treatment is effective and results in complete cure. Although many genetic mutations have been found to underlie adrenal-related endocrine hypertension (e.g., KCNJ5 mutations for primary aldosteronism, SDHB mutations for pheochromocytoma, and ARMC5 mutations in macronodular adrenal hyperplasia), the mechanisms involved are still not fully understood. In addition, occurrences of adrenal lesions causing endocrine hypertension where the genetic cause is undefined still remain. Understanding the clinical presentation and the molecular mechanism underlying this form of hypertension is essential, not only to improve diagnosis rate of a potentially curable disease but also to discover novel drug targets which could potentially help treat idiopathic hypertension. This possibility has arisen as the role of adrenal hormone production has been highlighted by genome-wide association studies on idiopathic hypertension which found CYP17A1, a gene involved with adrenal hormone production, to be implicated in blood pressure regulation.
This Special Issue invites authors to contribute original research and review articles that will encourage progress in the efforts to understand the clinical presentations and molecular mechanisms underlying adrenal-related endocrine hypertension
Potential topics include but are not limited to the following:
- Clinical or basic science studies on hypertension caused by primary aldosteronism, hypercortisolism, pheochromocytoma, or hyperplasia of the different adrenal gland zones
- Novel insights into the mechanism by which the adrenal glands regulate blood pressure (e.g., elucidation of adrenal cell fate/function and novel pathogenic mutations causing adrenal-related endocrine hypertension diseases)
- Local prevalence of genetic variants associated with blood pressure regulation
- Genotype-phenotype relationships in adrenal-related endocrine hypertension diseases
- Interesting clinical cases on difficult-to-diagnose adrenal-related endocrine hypertension disease