Endocrine Abstracts

We present two cases of glucocorticoid remediable aldosteronism (GRA) diagnosed through screening the children of an affected mother.

GRA is a rare inherited cause of hypertension in children. A monogenic defect produces a chimeric gene, which codes for two enzymes involved in the production of aldosterone and cortisol. This leads to adrenocorticotropin stimulated aldosterone production. GRA is thought to account for 1% of primary aldosteronism with around 150 documented cases in the literature. Increasing numbers of cases are being confirmed through the availability of a relatively new highly sensitive and specific genetic test. This is superseding biochemical and suppression testing. Patients usually present with severe hypertension and are at risk of hypokalaemia and cerebrovascular aneurysms. Treatment is with corticosteroids or aldosterone antagonists.

The cases were referred from the local genetics team after organising testing at mother’s request. Of three children, two were found to be positive for the genetic defect.

DH was a 7-year-old boy and RH a 3 years old girl who were both asymptomatic. Mother and maternal grandmother were positive for the GRA mutation. An 11 years old cousin was under treatment for the disease. History and examination was unremarkable for both. DH was noted to have systolic blood pressure above 99th centile (129/80) with RH at the 90th centile (102/54). Biochemical investigations were unremarkable. Echocardiography and brain magnetic resonance angiography were normal.

DH was commenced on a low dose of Spironolactone initially, which was increased to control blood pressure. RH was managed conservatively and then required Spironolactone following persistent hypertension 1 year from diagnosis. Both children are currently well with blood pressures within the normal range.

This case highlights the importance of screening relatives of those known to have GRA in order to instigate appropriate treatment and prevent complications.