A rare cause of hypertension in childhood: Answers

Abstract

The differential diagnosis of LRH with low aldosterone concentrations includes acquired causes and “classical genetic syndromes”. Consanguinity and three cases from a family were suggestive of genetic causes, including apparent mineralocorticoid excess (AME), activating mutation of the mineralocorticoid receptor, Liddle syndrome, congenital adrenal hyperplasia due to 11β hydroxylase deficiency, 17α hydroxylase deficiency, Gordon syndrome, and glucocorticoid resistance [1]. In our patients, congenital adrenal hyperplasia and glucocorticoid resistance were excluded due to incompatible clinical and laboratory findings. Gordon syndrome, which presents with hyperkalemia, was excluded. Liddle syndrome is caused by constitutive expression and impaired degradation of epithelial sodium channel (ENaC). The autosomal dominant pattern and unresponsiveness to spironolactone are important features of Liddle syndrome and therefore, it was excluded in our patients. AME is the most likely diagnosis for our patients.