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Horm Metab Res 2010; 42(6): 424-428
DOI: 10.1055/s-0029-1246187
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© Georg Thieme Verlag KG Stuttgart · New York

Familial Hyperaldosteronism I–III

I. Quack1 , O. Vonend1 , L. C. Rump1
  • 1Department of Nephrology, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany
Further Information

Publication History

received 30.09.2009

accepted 22.12.2009

Publication Date:
03 February 2010 (online)

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Abstract

Primary aldosteronism is the most frequent cause of secondary hypertension. Three variants of familial hyperaldosteronism are known today. Early onset hypertension and severe target organ damage are hallmarks of the heritable forms. The underlying gene defect has already been identified in familial hyperaldosteronism type I. In type II and III research is ongoing. A highly variable phenotype often precludes the discovery of the familial appearance of these syndromes. Taking a sound family history is extremely important to discover the Mendelian pattern of inheritance. The identification of affected families is highly rewarding because all variants can potentially be cured or at least specifically treated. Testing the relatives of an index patient sometimes even allows preemptive treatment. However, the availability of specific treatment options necessitates a solid differentiation between the three syndromes to avoid unnecessary medical therapy or surgery.

Key words

hyperaldosteronism - primary aldosteronism - familial hyperaldosteronism - Mendelian - adrenal glands - hypertension

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Correspondence

Prof. Dr. L. C. Rump

Department of Nephrology

Heinrich-Heine-University

Moorenstraße 5

40225 Düsseldorf

Germany

Phone: +49 211 81 17726

Fax: +49 211 81 17722

Email: christian.rump@med.uni-duesseldorf.de

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