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ESPN Teaching Point 9 Treatment approach to genetic arterial hypertension

ESPN Teaching Point 9 Treatment approach to genetic arterial hypertension . Case report The eleven month old boy was admitted because of mild myocardial hypertrophy and persistently elevated blood pressure (140/80 mmHg, > 97 percentile)

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ESPN Teaching Point 9 Treatment approach to genetic arterial hypertension

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  1. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Case report • The eleven month old boy was admitted because of mild myocardial hypertrophy and persistently elevated blood pressure (140/80 mmHg, > 97 percentile) • Family history revealed several cases of essential hypertension

  2. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension

  3. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Next steps: • Is there a primary impact of family history on first diagnostic steps ?

  4. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Next steps: • Is there a primary impact of family history on first diagnostic steps ? • If you assume genetic hypertensionhow do you proceed ?

  5. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Basic investigations • Kindey normal • Funduscopy no pathology • ECG hypertrophy no • ECHO size and function normal • Duplex-ultrasound kidney no pathology • Abdominal ultrasound no vascular abnormality • Captopril scintigraphy no pathology

  6. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Endocrine workup • Sodium, potassium normal • PRA, serum aldosterone normal • Epinephrine, norepinephrine normal • Cortisol, ACTH normal • 11-desoxycortisol normal • DHEA, NPY, testosterone normal

  7. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Steroid profile in urine • Tetrahydrocortisol + 5 tetrahydrocortisol / tetrahydrocortison   • Defect of 11-hydroxysteroid dehydrogenase (11 HSD)

  8. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension • 11 HSD is the key enzyme in the process of interconversion of cortisol and cortisone • Cortisol binding to mineralocorticoid receptor stimulates the receptor • Genetic anlaysis of the 11 HSD gene was performed.

  9. ESPN Teaching Point 9Treatment approach to genetic arterial hypertension Genetic analysis • Homozygousmutation in exon 2 atcodon 161 (Leucine161Glycine) • Worldwide only 50 patientswith AME described (infanthypertension, lowbirthweight, hypokaliemicalkalosis, lowplasmareninandlowaldosterone) • Recommended therapy: aldosteroneantagonist

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