Medizinische Klinik Campus Innenstadt, Klinikum der LMU, Munich, Germany.
Horm Metab Res. 2012 Mar;44(3):215-20. doi: 10.1055/s-0031-1299730. Epub 2012 Jan 24.
Primary aldosteronism (PA) is the most frequent cause of secondary arterial hypertension. To date 3 forms of familial hyperaldosteronism (FH) have been described accounting for a small percentage of all PA cases. In Germany, the prevalence of FH is currently unknown. Our aim was to determine the prevalence of familiarity in a large cohort of patients with PA. A total of 166 patients with apparently sporadic PA in Munich were investigated. FH types I, II, and III were identified using established clinical, biochemical, and molecular criteria. Among the 166 patients with PA, 2 patients (1.2%) reported a family history suggestive of FH. None of the 166 patients showed clinical, endocrine, or genetic evidence of FH type I. The 2 families had characteristic features of FH type II. Family A had 3 subjects affected out of 11 evaluated family members. Family B had 3 out of 4. Bilateral adrenal hyperplasia and unilateral adrenal adenoma were found within the same family. FH type I and FH type III are rare in Germany. With a prevalence of 1.2%, FH type II seems to be more common in apparently sporadic PA than had been assumed so far.
原发性醛固酮增多症(PA)是继发性高血压最常见的原因。迄今为止,已经描述了 3 种家族性醛固酮增多症(FH)形式,它们仅占所有 PA 病例的一小部分。在德国,FH 的患病率目前尚不清楚。我们的目的是在大量 PA 患者中确定家族史的患病率。共对慕尼黑的 166 名疑似散发性 PA 患者进行了研究。使用既定的临床、生化和分子标准确定 FH 类型 I、II 和 III。在 166 名 PA 患者中,有 2 名(1.2%)报告了 FH 的家族史。166 名患者均无 FH 类型 I 的临床、内分泌或遗传证据。这 2 个家族具有 FH 类型 II 的特征。A 家族中有 3 名受影响的成员在 11 名受评估的家庭成员中。B 家族有 4 名中的 3 名。在同一个家庭中发现双侧肾上腺增生和单侧肾上腺腺瘤。在德国,FH 类型 I 和 FH 类型 III 较为罕见。FH 类型 II 的患病率为 1.2%,似乎比迄今为止假设的更为常见。