1 / 9

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)

Download Presentation

ESPN Teaching Point 9 Treatment approach to genetic arterial hypertension

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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

More Related