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Molecular Derangements in Sporadic Primary Aldosteronism

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Primary Aldosteronism

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Abstract

Until very recently molecular derangements were merely unknown in primary aldosteronism. New genetic techniques have allowed detailed searches which have led to identification (to date) of a number of mutated genes—KCNJ5, ATP1A1, ATP2B3, and CACNA1D—all encoding for channel proteins which when activated or disturbed cause depolarization of the glomerulosa cell and release of aldosterone. In addition, activation of the beta catenin pathway has also been noticed in these cells. Identification of these genes gives hope for future development of targeted drugs, detailed diagnostic procedures, and individualized medicine.

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Authors and Affiliations

  1. Departments of Surgical Sciences, Uppsala University, Akademiska sjukhuset ing 70 1 tr, 751 85, Uppsala, Sweden

    Per Hellman M.D., Ph.D. & Tobias Åkerström

  2. Department of Surgical Sciences, Clinical Research Department, Uppsala University, kademiska sjukhuset ing 70 3 tr, 751 85, Uppsala, Sweden

    Peyman Björklund

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  1. Per Hellman M.D., Ph.D.
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  2. Tobias Åkerström
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  3. Peyman Björklund
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Correspondence to Per Hellman M.D., Ph.D. .

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

    Per Hellman

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Hellman, P., Åkerström, T., Björklund, P. (2014). Molecular Derangements in Sporadic Primary Aldosteronism. In: Hellman, P. (eds) Primary Aldosteronism. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0509-6_4

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