Renal pseudohypoaldosteronism (PHA1) is a mild form of an aldosterone-resistance syndrome caused by mutations in the NR3C2 gene that codes for the mineralocorticoid receptor (MR). The disease is inherited as an autosomal dominant trait characterized by signs and symptoms of salt-losing in infancy. Disease manifestations could be severe in infancy but improve after the age of 1–3 years. Some affected members are asymptomatic and remain so life-long. In this study, we report the identification of a large deletion in the NR3C2 gene (c.1897+1_1898−1)_(c.*2955+?)del in renal PHA1 patients from an extended family spanning four generations. We prospectively evaluated the plasma renin activity and serum aldosterone profiles over four decades in symptomatic and asymptomatic affected family members. The benefits of early diagnosis on the clinical outcome were assessed as well. The long-term follow-up showed an age-dependent decrease in both plasma renin activity and serum aldosterone levels over the years. However, aldosterone levels remain high life-long. Thus, levels of aldosterone are a reliable marker to detect asymptomatic family members. The diagnosis of the proposita led to early diagnosis and therapy in other affected family members, significantly mitigating the clinical course. Despite the extremely elevated serum aldosterone levels during pregnancy, affected pregnant women did not experience any ill effects. However, this should be verified by observations in other adult patients.

肾假性低醛固酮增多症（PHA1）是由NR3C2突变引起的醛固酮抵抗综合征的轻度形式编码盐皮质激素受体（MR）的基因。该疾病被遗传为常染色体显性特征，其特征在于婴儿期失盐的迹象和症状。婴儿时期的疾病表现可能很严重，但在1-3岁以后会有所改善。一些受影响的成员没有症状，并且终生如此。在这项研究中，我们报道了在跨越四代人的大家庭中，肾脏PHA1患者中NR3C2基因（c.1897 + 1_1898-1）_（c。* 2955 +？）del的大量缺失的鉴定。我们前瞻性评估了有症状和无症状的受影响家庭成员在过去四十年中的血浆肾素活性和血清醛固酮状况。还评估了早期诊断对临床结果的益处。长期随访显示，这些年来血浆肾素活性和血清醛固酮水平均有年龄依赖性的下降。然而，醛固酮水平终生保持较高水平。因此，醛固酮水平是检测无症状家庭成员的可靠标志。对性病的诊断导致其他受影响家庭成员的早期诊断和治疗，从而大大减轻了临床病程。尽管怀孕期间血清醛固酮水平极高，但受影响的孕妇没有任何不适。但是，这应该通过其他成年患者的观察来证实。对性病的诊断导致其他受影响家庭成员的早期诊断和治疗，从而大大减轻了临床病程。尽管怀孕期间血清醛固酮水平极高，但受影响的孕妇没有任何不适。但是，这应该通过其他成年患者的观察来证实。对性病的诊断导致其他受影响家庭成员的早期诊断和治疗，从而大大减轻了临床病程。尽管怀孕期间血清醛固酮水平极高，但受影响的孕妇没有任何不适。但是，这应该通过其他成年患者的观察来证实。