PRIMARY ALDOSTERONISM. MOLECULAR GENETICS, ENDOCRINOLOGY, AND TRANSLATIONAL MEDICINE

1 Primary Aldosteronism: Molecular Mechanisms and Diagnosis ....... 1
Gian Paolo Rossi and Livia Lenzini
2 Epidemiology and the Need for Screening ............................................ 21
Richard Douglas Gordon
3 Low-Renin Hypertension ....................................................................... 39
Per Hellman and Emil Hagström
4 Molecular Derangements in Sporadic Primary Aldosteronism ......... 45
Per Hellman, Tobias Åkerström, and Peyman Björklund
5 From Genetic Abnormalities to Pathophysiological Mechanisms ...... 53
Maria-Christina Zennaro and Sheerazed Boulkroun
6 Familial Hyperaldosteronism Type I..................................................... 75
Paolo Mulatero, Silvia Monticone, Franco Veglio,
and Tracy Ann Williams
7 Familial Hyperaldosteronism Type II ................................................... 87
Michael Stowasser and Richard Douglas Gordon
8 Familial Hyperaldosteronism Type III ................................................. 99
Tracy Ann Williams, Silvia Monticone, Franco Veglio,
and Paolo Mulatero
9 The Aldosterone–Renin Ratio: Role and Problems ............................. 109
Michael Stowasser and Richard Douglas Gordon
10 Confi rmatory Testing for Primary Aldosteronism .............................. 127
Matthias Haase, Matthias Gruber, Xing Gao, Oliver Vonend,
and Holger S. Willenberg viii
11 Radiological and Radionuclide Imaging
of Adrenocortical Tumours .................................................................... 141
Anders Sundin
12 Aldosterone and Cardiovascular Diseases ............................................ 155
Andreas Tomasschitz and Stefan Pilz
13 Quality-of-Life Aspects of Primary Aldosteronism ............................. 197
Michael Stowasser and Ashraf H. Ahmed
14 Medical Treatment of Primary Aldosteronism .................................... 209
Yoshiyu Takeda, Masashi Demura, and Takashi Yoneda
15 Surgical Treatment of Unilateral Excessive
Aldosterone Production .......................................................................... 215
Peter Stålberg and Per Hellman
Index ................................................................................................................. 22

- 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.