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

Next steps:

Is there a primary impact of family history on first diagnostic steps ?

Next steps:

Is there a primary impact of family history on first diagnostic steps ?

If you assume genetic hypertensionhow do you proceed ?

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

Endocrine workup

Sodium, potassium normal PRA, serum aldosterone normal Epinephrine, norepinephrine normal

Cortisol, ACTH normal 11-desoxycortisol normal DHEA, NPY, testosterone normal

Steroid profile in urine

Tetrahydrocortisol + 5 tetrahydrocortisol / tetrahydrocortison

Defect of 11-hydroxysteroid dehydrogenase (11 HSD)

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.

Genetic analysis Homozygous mutation in exon 2 at codon 161

(Leucine161Glycine)

Worldwide only 50 patients with AME described (infant hypertension, low birth weight, hypokaliemic alkalosis, low plasma renin and low aldosterone)

Recommended therapy: aldosterone antagonist