Department of Nephrology, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Horm Metab Res. 2010 Jun;42(6):424-8. doi: 10.1055/s-0029-1246187. Epub 2010 Feb 3.
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.
原发性醛固酮增多症是最常见的继发性高血压病因。目前已知三种家族性高醛固酮血症的变异型。早发高血压和严重靶器官损害是遗传性形式的特征。家族性醛固酮增多症 I 型的潜在基因缺陷已经确定。在 II 型和 III 型中，研究正在进行。高度可变的表型常常使这些综合征的家族表现难以发现。详细了解家族史对于发现孟德尔遗传模式非常重要。发现受影响的家族是非常有价值的，因为所有的变异型都有可能被治愈，或者至少可以得到特异性治疗。对索引患者的亲属进行检测有时甚至可以进行预防性治疗。然而，特定治疗方案的可用性需要在这三种综合征之间进行明确区分，以避免不必要的药物治疗或手术。
