Molecular Genetics, Endocrinology, and Translational Medicine
Hellman, Per (Ed.)
2014, XI, 233 p. 25 illus., 17 illus. in color.
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Presents Primary Aldosteronism (PA) from pathophysiology to quality of life aspects, covering genetics, diagnostics, different treatments in a truly translational manner
Discusses what is needed for the development of care of individuals with PA
Explores recent developments in understanding the genetics behind sporadic PA that may lead to novel methods to diagnose the disease in the future
Primary Aldosteronism (PA) is a disease caused by the overproduction of aldosterone hormone from the adrenal glands. PA causes hypertension and the majority with this disease are undiagnosed for PA. There are new insights into this matter by using biochemistry as well as advanced radiology. In 2011, a breakthrough in the genetic derangements came, identifying a mutated potassium channel gene – KCNJ5 – in about 40% of PA with adenoma. Chapters in this book include a history of the disorder, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.