诊断明显矿化皮质激素过量的儿童高血压和肾钙质沉着症:从症状到遗传学。

IF 0.7 Q4 UROLOGY & NEPHROLOGY
CEN Case Reports Pub Date : 2025-10-01 Epub Date: 2025-07-28 DOI:10.1007/s13730-025-01015-z
Pujitha Vallabhaneni, S K Safikul Hasan, Karalanglin Tiewsoh, Aarchie Gupta, Priyanka Srivastava, Lesa Dawman
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引用次数: 0

摘要

表观矿皮质激素过量(AME)是一种罕见的遗传性疾病,由11β-羟基类固醇脱氢酶2型(11β-HSD2)酶活性降低引起。它的特点是高血压、低钾血症、肾素和醛固酮水平低。本研究报告一例2岁女性患者,表现为腹胀、高血压、反复低钾血症伴代谢性碱中毒、发育不良、多尿和佝偻病的特征。此外,患者表现为肾钙质沉着和肾脏增大,肾多普勒检查正常。遗传分析显示HSD11B2基因纯合突变,证实AME的诊断。阿米洛利和螺内酯治疗导致尿量正常化,血压稳定,电解质水平平衡。本病例强调了在以不明原因难治性高血压合并低钾血症和肾钙质沉着症的儿科患者中考虑AME的重要性,并强调了基因检测在诊断和治疗中的关键作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

Apparent mineralocorticoid excess (AME) is a rare genetic disorder caused by reduced activity of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme. It is characterized by hypertension, hypokalemia, and low levels of renin and aldosterone. This study presents the case of a 2-year-old female patient who exhibited abdominal distension, hypertension, recurrent hypokalemia with metabolic alkalosis, failure to thrive, polyuria, and features of rickets. Furthermore, the patient presented with nephrocalcinosis and enlarged kidneys with a normal renal Doppler study. The genetic analysis revealed a homozygous mutation in the HSD11B2 gene, confirming the diagnosis of AME. The treatment with amiloride and spironolactone resulted in normalized urine output, stabilized blood pressure, and balanced electrolyte levels. This case emphasizes the importance of considering AME in pediatric patients presenting with unexplained refractory hypertension associated with hypokalemia and nephrocalcinosis, and it underscores the crucial role of genetic testing in diagnosis and management.

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来源期刊
CEN Case Reports
CEN Case Reports UROLOGY & NEPHROLOGY-
CiteScore
1.90
自引率
0.00%
发文量
80
期刊介绍: Clinical and Experimental Nephrology (CEN) Case Reports is a peer-reviewed online-only journal, officially published biannually by the Japanese Society of Nephrology (JSN).  The journal publishes original case reports in nephrology and related areas.  The purpose of CEN Case Reports is to provide clinicians and researchers with a forum in which to disseminate their personal experience to a wide readership and to review interesting cases encountered by colleagues all over the world, from whom contributions are welcomed.
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