Familial hyperaldosteronism I-III

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme
I QuackLars Christian Rump

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.

Citations

May 14, 2011·Endocrinology and Metabolism Clinics of North America·Michael StowasserRichard D Gordon
Nov 14, 2013·Molecular and Cellular Endocrinology·Antonio M LerarioGary D Hammer
Oct 11, 2017·American Journal of Hypertension·Gregory A KlineErnesto L Schiffrin
Sep 15, 2010·Hypertension·Okan TokaSylvia Bähring
Dec 31, 2019·Endocrinology and Metabolism·Sergei G TevosianHans K Ghayee
Aug 8, 2019·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Fang QinLei Song
Nov 14, 2020·Current Pharmaceutical Design·Eleni P KotanidouAssimina Galli-Tsinopoulou

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