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Familial hyperaldosteronism type III

Journal of Human Hypertension volume 31, pages 776–781 (2017)Cite this article

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Abstract

Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis. To date, eleven families have been reported, carrying six different mutations. Although the clinical features are variable, FH-III patients often display severe hyperaldosteronism with an early onset, associated with hypokalemia and diabetes insipidus-like symptoms. In most cases FH-III patients are resistant to pharmacological therapy and require bilateral adrenalectomy to control symptoms. In the present manuscript, we review the genetics and pathological basis of FH-III, the diagnostic work-up, clinical features and therapeutic management. Finally, we will describe a new case of FH-III of an Italian patient carrying a Gly151Arg mutation.

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Acknowledgements

PM and SM are in receipt of a grant from the Italian Ministry of the Instruction, University and Research (ex-60% 2013 and 2014, PM; ex-60% 2014 and 2015, SM).

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Authors and Affiliations

  1. Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy

    S Monticone, M Tetti, J Burrello, F Buffolo, F Veglio, T A Williams & P Mulatero

  2. Department of Internal Medicine, Unit of Internal Medicine and Angiology, Riccione Hospital, AUSL, Romagna, Italy

    R De Giovanni

  3. Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, München, Germany

    T A Williams

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Correspondence to P Mulatero.

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Monticone, S., Tetti, M., Burrello, J. et al. Familial hyperaldosteronism type III. J Hum Hypertens 31, 776–781 (2017). https://doi.org/10.1038/jhh.2017.34

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