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Familial Hyperaldosteronism Type III

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Primary Aldosteronism

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Abstract

Primary aldosteronism is a frequent form of endocrine hypertension comprising both sporadic and familial forms. Three forms of familial hyperaldosteronism have been described to date. In this chapter we discuss the clinical phenotypes and the genetic basis of familial hyperaldosteronism type III. This condition is caused by a mutation in the KCNJ5 gene, encoding the potassium channel GIRK4 (also called Kir 3.4), that alters the selectivity filter of the ion channel. In the presence of these mutations, aldosterone secretion is increased leading to a particularly severe form of hyperaldosteronism with early-onset hypertension that is usually resistant to pharmacological treatment and requires bilateral adrenalectomy.

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Abbreviations

ACTH:

Adrenocorticotropic hormone

ADX:

Adrenalectomy

APA:

Aldosterone-producing adenoma

CYP11B1:

11β-Hydroxylase

CYP11B2:

Aldosterone synthase

DBP:

Diastolic blood pressure

FH-III:

Familial hyperaldosteronism type III

PA:

Primary aldosteronism

PRA:

Plasma renin activity

SBP:

Systolic blood pressure

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Authors and Affiliations

  1. Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, Medicina Interna 4, Via Genova 3, Torino, 10126, Italy

    Tracy Ann Williams Ph.D., Silvia Monticone, Franco Veglio & Paolo Mulatero M.D.

Authors
  1. Tracy Ann Williams Ph.D.
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  2. Silvia Monticone
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  3. Franco Veglio
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  4. Paolo Mulatero M.D.
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Corresponding author

Correspondence to Tracy Ann Williams Ph.D. .

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Editors and Affiliations

  1. Department of Surgery, University Hospital, Uppsala, Sweden

    Per Hellman

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Williams, T.A., Monticone, S., Veglio, F., Mulatero, P. (2014). Familial Hyperaldosteronism Type III. In: Hellman, P. (eds) Primary Aldosteronism. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0509-6_8

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