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Dr Iwona Ben-Skowronek

Dr Iwona Ben-Skowronek

Medical University of Lublin, Poland

Title: Adrenal causes of hypertension in children

Biography

Biography: Dr Iwona Ben-Skowronek

Abstract

Arterial hypertension in children is defined as average systolic and/or diastolic BP that is over the 95th percentile for the gender, age and height on over 3 occasions. The cause of arterial hypertension in 1 to 2% of children is overproduction of catecholamines  as the effect of  pheochromocytoma development. Mutations of the genes VHL, RET, NF1 (Gene 17 Neurofibromatosis type 1), SDHB and SDHD are all known to cause up to 25% familial pheochromocytoma.  Pheochromocytoma may be a tumor of the multiple endocrine neoplasia syndrome, type IIA and type IIB (also known as MEN IIA and MEN IIB). The monogenic defects of mineralocorticoid production in the cortex of adrenals lead to hypertension  with a decreased  serum renin concentration. Most common is the congenital adrenal hyperplasia (CAH),  especially 11-beta hydroxylase deficiency ( 5-8% of CAH) connected with fetal  virilisation in girls and  steroid 17- hydroxylase deficiency associated with the abnormal sex phenotype. Hyperaldosteronism as the cause of hypertension may be diagnosed as familial hyperaldosteronism type I  with a chimeric gene between CYP11B1 and CYP11B2- glucocorticoid remediable aldosteronism sensitive to dexamethasone treatment or familial hyperaldosteronism type II – without hybrid mutation. A rare form is the apparent mineralocorticoid excess ( AME) – an inherited form of hypertension caused by 11-beta hydroxisteroid dehydrogenase type 2 deficiency. Primary aldosteronism is the common cause of hypertension in adults (to 37%) and rare in children   that suggests  development of aldosterone-producing adenomas in children prior to development of hypertension and vascular damage. The differential diagnosis  of hypertension in children is necessary for choice of adequate treatment.