Familial hyperaldosteronism I-III.
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.
Quack
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Department of Nephrology, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Vonend
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Rump
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D000465:Algorithms; D003940:Diagnostic Techniques, Endocrine; D005190:Family; D005820:Genetic Testing; D006801:Humans; D006929:Hyperaldosteronism / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006973:Hypertension / Q000175:diagnosis / Q000209:etiology