By Per Hellman

Primary Aldosteronism (PA) is a illness attributable to the overproduction of aldosterone hormone from the adrenal glands. PA factors high blood pressure and the bulk with this illness are undiagnosed for PA. There are new insights into this subject through the use of biochemistry in addition to complex radiology. In 2011, a leap forward within the genetic derangements got here, picking a mutated potassium channel gene – KCNJ5 – in approximately forty% of PA with adenoma. Chapters during this booklet contain a heritage of the affliction, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.

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Extra info for Primary Aldosteronism: Molecular Genetics, Endocrinology, and Translational Medicine

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Nishikawa T, Saito J, Omura M (2007) Prevalence of primary aldosteronism: should we screen for primary aldosteronism before treating hypertensive patients with medication? Endocr J 54(4):487–495 68. Omura M, Saito J, Yamaguchi K, Kakuta Y, Nishikawa T (2004) Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan. Hypertens Res 27:193–202 69. Padfield PL (2003) Prevalence and role of a raised aldosterone to renin ratio in the diagnosis of primary aldosteronism: a debate on the scientific logic of the use of the ratio in practice.

Critically, it will depend on (a) identification of an infective or genetic cause or, if not infective or genetic, (b) a tight and universally acceptable definition of what the condition is. This has become a real difficulty for PA, as already discussed. 2 Epidemiology and the Need for Screening 31 Most importantly of all, however, it will depend on the prevailing attitudes, global or local, regarding the commonness and importance of the condition, and hence the degree of enthusiasm regarding the need to make the diagnosis.

J Clin Endocrinol Metab 91:2618–2623 Kupers EM, Amar L, Raynaud A, Plouin PF, Steichen O (2012) A clinical prediction score to diagnose unilateral primary aldosteronism. J Clin Endocrinol Metab 97:3530–3537 Rossi GP, Ganzaroli C, Miotto D, De Toni R, Palumbo G, Feltrin GP, Mantero F, Pessina AC (2006) Dynamic testing with high-dose adrenocorticotrophic hormone does not improve lateralization of aldosterone oversecretion in primary aldosteronism patients. J Hypertens 24:371–379 Seccia TM, Miotto D, De Toni R, Pitter G, Mantero F, Pessina AC, Rossi GP (2009) Adrenocorticotropic hormone stimulation during adrenal vein sampling for identifying surgically curable subtypes of primary aldosteronism.

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