HSD11B2中新的纯合致病变异是明显的矿物皮质激素过量的原因。

IF 4.1 2区医学 Q1 PERIPHERAL VASCULAR DISEASE

Journal of Hypertension Pub Date : 2025-09-15 DOI:10.1097/HJH.0000000000004159

Ana Roche-Gomez, Cristina Julia Blázquez Gómez, Alejandra Licero Villanueva, Mar Espino Hernández

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引用次数: 0

摘要

明显的矿物皮质激素过量是一种非常罕见的常染色体隐性遗传病，迄今为止报道的病例不到100例。这种单基因疾病是由11- β -羟基类固醇2型酶功能障碍引起的，其特征是严重的高血压和电解质紊乱。该病的初步怀疑和诊断对于有针对性的治疗至关重要，从而改善这些患者的预后并减少并发症。

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Novel homozygous pathogenic variant in HSD11B2 as a cause of apparent mineralocorticoid excess.

Apparent mineralocorticoid excess is an extraordinarily rare autosomal recessive disorder, with less than 100 cases reported to date. This monogenic disorder, due to dysfunction of the 11-beta-hydroxysteroid type 2 enzyme, is characterized by severe hypertension and hydroelectrolytic disorders. The initial suspicion and diagnosis of this disease are crucial for targeted treatment, thereby improving the prognosis of these patients and minimizing complications.

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来源期刊

Journal of Hypertension 医学-外周血管病

CiteScore

7.90

自引率

6.10%

发文量

1389

审稿时长

3 months

期刊介绍： The Journal of Hypertension publishes papers reporting original clinical and experimental research which are of a high standard and which contribute to the advancement of knowledge in the field of hypertension. The Journal publishes full papers, reviews or editorials (normally by invitation), and correspondence.