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首页> 外文期刊>Endocrine journal >Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism
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Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism

机译：非糖皮质激素可补救的家族性醛固酮增多症的儿科病例中的多尿多息综合征

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摘要

Familial hyperaldosteronism (FH) encompasses 3 types of autosomal dominant hyperaldosteronisms leading to inheritable hypertension. FH type Ⅱ (FH-Ⅱ), undistinguishable from sporadic hyperaldosteronism, represents the most frequent cause of inheritable hypertension and is believed to only manifest in adults. FH-Ⅲ is a severe variety of PA resistant to pharmacotherapy and recently demonstrated to be caused by mutations in the gene encoding the potassium channel KCNJ5. In this report, we describe a FH pediatric patient, remarkable both for age at onset and unusual presentation: a two-years old girl with polyuric-polydipsic syndrome and severe hypertension, successfully treated with canrenone and amiloride. The girl had severe hypertension, hypokalemia, hypercalciuria, suppressed renin activity, high aldosterone, and unremarkable adrenal imaging. FH type Ⅰ was ruled out by glucocorticoid suppression test, PCR test for CYP11B1/ CYP11B2 gene, and urinary 18-oxo-cortisol and 18-hydroxy-cortisol excretion, which was in FH-Ⅱ range. In spite of a clear-cut FH-Ⅱ phenotype, the girl and her mother were found to harbor a FH-Ⅲ genotype with KCNJ5 mutation (c.452G>A). Treatment with canrenone was started, resulting in prompt normalization of electrolytes and remission of polyuric-polydypsic syndrome. The addition of amiloride led to a complete normalization of blood pressure. This report expands the phenotypic spectrum of FH-Ⅲ to a milder end, mimiking FH-Ⅱ phenotype demonstrating that pharmacotherapy may be effective. This also implies that FH-Ⅱ/Ⅲ should be considered in the differential diagnosis of hypertensive children and, perhaps, that the offspring of patients with hyperaldosteronism should be screened for hypertension.
机译：家族性醛固酮过多症（FH）包括3种类型的常染色体显性醛固酮过多症，可导致遗传性高血压。与散发性醛固酮增多症没有区别的Ⅱ型FH（FH-Ⅱ）是遗传性高血压的最常见原因，据信仅在成年人中出现。 FH-Ⅲ是一种严重的PA，对药物治疗有抵抗力，最近被证明是由编码钾通道KCNJ5的基因突变引起的。在本报告中，我们描述了一位FH儿科患者，该患者在发病年龄和异常表现方面均引人注目：一名两岁多尿多囊性综合征和严重高血压的女孩，已成功使用烯睾丙内酯和阿米洛利治疗。该女孩患有严重的高血压，低血钾，高钙尿症，肾素活性受到抑制，醛固酮水平高和肾上腺成像不明显。糖皮质激素抑制试验，CYP11B1 / CYP11B2基因PCR检测，尿18-氧-皮质醇和18-羟基-皮质醇排泄均在FH-Ⅱ范围内，排除FHⅠ型。尽管FH-Ⅱ的表型很明确，但女孩和母亲被发现带有KCNJ5突变的FH-Ⅲ基因型（c.452G> A）。开始使用烯睾丙内酯治疗，可迅速使电解质恢复正常状态，并缓解尿酸多尿综合征。阿米洛利的加入导致血压完全正常化。该报告将FH-Ⅲ的表型谱扩展到较温和的末端，模仿了FH-Ⅱ的表型，表明药物治疗可能有效。这也意味着在高血压儿童的鉴别诊断中应考虑FH-Ⅱ/Ⅲ，也许应该筛查患有高血压的醛固酮增多症患者的后代。

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  • 来源
    《Endocrine journal》 |2012年第6期|p.497-502|共6页
  • 作者

    Alessandro Mussa; Roberta Camilla; Silvia Monticone; Francesco Porta; Daniele Tessaris; Francesca Verna; Paolo Mulatero; Silvia Einaudi;

  • 作者单位

    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino. Piazza Polonia 94, 10126, Torino, Italy;

    Division of Pediatric Nephrology and Transplantation, Regina Margherita Children Hospital, Torino, Italy;

    Division of Internal Medicine and Hypertension, Department of Medicine and Experimental Oncology, University of Torino,Torino, Italy;

    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Torino, Italy;

    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Torino, Italy;

    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Torino, Italy;

    Division of Internal Medicine and Hypertension, Department of Medicine and Experimental Oncology, University of Torino,Torino, Italy;

    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Torino, Torino, Italy;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    hyperaldosteronism; hypertension; children; pediatrics; polyuria;

    机译：醛固酮过多症;高血压;孩子们儿科;多尿;

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