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<p>Arterial hypertension is characterised by elevated blood pressure (BP) leading to cardiovascular morbidity and mortality, and organ damage. Its prevalence in childhood is around 5% and children should be screened from 3 years of age. Hypertension in childhood or adolescence requires exclusion of a secondary cause. Adrenal disorders frequently underlie secondary hypertension. presenting with imbalances of BP and pleiotropic clinical presentations. Examples are rare genetic defects leading to increased mineralocorticoid activity such as Congenital Adrenal Hyperplasia (CAH) due to 11β-hydroxylase gene (<i>CYP11B1</i>) or 17-hydroxylase gene <i>(CYP17A1)</i> mutation, and Familial Hyperaldosteronism (FH), due to 11β-hydroxylase 1 (<i>CYP11B1</i>) and 11β-hydroxylase 2 (<i>CYP11B2</i>) gene fusion, or to mutations of other genes involved in aldosterone production such as those codifying the chloride-voltage gated channel 2 (<i>CLCN2</i>), the potassium inwardly rectifying channel subfamily J member 5 (<i>KCNJ5</i>), and the calcium voltage-gated channel subunitsα1 H and D (CACNA1H and CACNA1D).&#xa0;The differential diagnosis of childhood hypertension also includes endogenous hypercortisolism (Cushing’s syndrome) or phaeochromocytomas/paragangliomas, neoplastic conditions potentially caused by germinal genetic alterations, in a specific familial syndrome. Lastly, peripheral glucocorticoid and mineralocorticoid pathway disorders due to germline mutations in <i>HSD-11B2</i>, codifying the enzyme 11β-dehydrogenase type 2, <i>NR3C1</i> and&#xa0;<i>NR3C2</i> genes codifying the nuclear receptor subfamily 3 group C members 1 and 2 may also be responsible.&#xa0;A systematic diagnostic approach based on published guidelines is still lacking, and diagnostic suspicions with referral for gene sequencing need to be identified. This review discusses the known causes of endocrine hypertension in children and adolescents, with an emphasis on prevalence, clinical presentation, genetic predisposition and therapeutic strategies.</p>

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Adrenal causes of endocrine hypertension in childhood or adolescence

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月20日

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  • Bianca Pellegrini,
  • Ilaria Bonaventura,
  • Valeria Hasenmajer,
  • Chiara Simeoli,
  • Claudia Pivonello,
  • Davide Ferrari,
  • Sabrina Criscuolo,
  • Alessandra Tomaselli,
  • Andrea M. Isidori,
  • Ashley B. Grossman,
  • Andrea Lenzi,
  • Maria Cristina De Martino,
  • Martin O. Savage

摘要

Arterial hypertension is characterised by elevated blood pressure (BP) leading to cardiovascular morbidity and mortality, and organ damage. Its prevalence in childhood is around 5% and children should be screened from 3 years of age. Hypertension in childhood or adolescence requires exclusion of a secondary cause. Adrenal disorders frequently underlie secondary hypertension. presenting with imbalances of BP and pleiotropic clinical presentations. Examples are rare genetic defects leading to increased mineralocorticoid activity such as Congenital Adrenal Hyperplasia (CAH) due to 11β-hydroxylase gene (CYP11B1) or 17-hydroxylase gene (CYP17A1) mutation, and Familial Hyperaldosteronism (FH), due to 11β-hydroxylase 1 (CYP11B1) and 11β-hydroxylase 2 (CYP11B2) gene fusion, or to mutations of other genes involved in aldosterone production such as those codifying the chloride-voltage gated channel 2 (CLCN2), the potassium inwardly rectifying channel subfamily J member 5 (KCNJ5), and the calcium voltage-gated channel subunitsα1 H and D (CACNA1H and CACNA1D). The differential diagnosis of childhood hypertension also includes endogenous hypercortisolism (Cushing’s syndrome) or phaeochromocytomas/paragangliomas, neoplastic conditions potentially caused by germinal genetic alterations, in a specific familial syndrome. Lastly, peripheral glucocorticoid and mineralocorticoid pathway disorders due to germline mutations in HSD-11B2, codifying the enzyme 11β-dehydrogenase type 2, NR3C1 and NR3C2 genes codifying the nuclear receptor subfamily 3 group C members 1 and 2 may also be responsible. A systematic diagnostic approach based on published guidelines is still lacking, and diagnostic suspicions with referral for gene sequencing need to be identified. This review discusses the known causes of endocrine hypertension in children and adolescents, with an emphasis on prevalence, clinical presentation, genetic predisposition and therapeutic strategies.