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Abstract：
While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: familial hyperaldosteronism (FH) types I to IV. FH-I, also called glucocorticoid-remediable aldosteronism, is characterized by early and severe hypertension, usually before the age of 20 years. It is due to the formation of a chimeric gene between the adjacent CYP11B2 and CYP11B1 genes (coding for aldosterone synthase and 11β-hydroxylase, respectively). FH-I is often associated with family history of stroke before 40years of age. FH-II is clinically and biochemically indistinguishable from sporadic forms of PA and is only diagnosed on the basis of two or more affected family members. No causal genes have been identified so far and no genetic test is available. FH-III is characterized by severe and early-onset hypertension in children and young adults, resistant to treatment and associated with severe hypokalemia. Mild forms, resembling FH-II, have been described. FH-III is due to gain-of-function mutations in the KCNJ5 gene. Recently, a new autosomal-dominant form of familial PA, FH-IV, associated with mutations in the CACNA1H gene, was described in patients with hypertension and PA before the age of 10years. In rare cases, PA may be associated with complex neurologic disorder involving epileptic seizures and cerebral palsy (Primary Aldosteronism, Seizures, and Neurologic Abnormalities [PASNA]) due to de novo germline CACNA1D mutations.
摘要：
虽然大多数原发性醛固酮增多症（PA）的病例是零星的，已经描述了四种形式的常染色体显性遗传：家族性醛固酮增多症（FH）I至IV型。FH-I,也称为糖皮质激素治疗醛固酮增多症，以早期和严重的高血压为特征，通常在20岁之前。这是由于在相邻的CYP11B2和CYP11B1基因之间形成了嵌合基因（编码醛固酮合酶和11β-羟化酶，分别)。FH-I通常与40岁之前的中风家族史有关。FH-II在临床和生物化学上与散发形式的PA没有区别,并且仅基于两个或更多个受影响的家庭成员来诊断。到目前为止，尚未发现因果基因，也没有可用的基因测试。FH-III的特征是儿童和年轻人的严重和早发性高血压，抵抗治疗并伴有严重低钾血症。温和的形式，类似于FH-II,已被描述。FH-III是由于KCNJ5基因中的功能获得突变。最近,一种新的常染色体显性遗传形式的家族性PA，FH-IV,与CACNA1H基因突变相关，在10岁之前患有高血压和PA的患者中进行了描述。在极少数情况下,PA可能与复杂的神经系统疾病有关，包括癫痫发作和脑瘫（原发性醛固酮增多症，癫痫发作,和神经系统异常[PASNA]）由于从头种系CACNA1D突变。
