Clinical presentation of metabolic alkalosis in an adult patient with cystic fibrosis

In subtropical and tropical climates, dehydration is common in cystic fibrosis patients with respiratory exacerbations. This may lead to a clinical presentation of metabolic alkalosis with associated hyponatraemia and hypochloraemia. An adult cystic fibrosis patient who presented with a severe respiratory exacerbation accompanied by metabolic alkalosis is presented and the effects of volume correction are reported.

Monogenic mineralocorticoid hypertension

Monogenic mutations leading to excessive activation of the mineralocorticoid pathway result, almost always, in suppressed renin and hypertension in adult life and sometimes in hypokalaemia and alkalosis, which can be severe. In most of these syndromes, precise molecular changes in specific steroidogenic or effector genes have been identified, permitting appreciation of (1) pathophysiology, (2) great diversity of phenotype and (3) possibility of genetic methods of diagnosis. Yet to be achieved elucidation of the genetic basis of familial hyperaldosteronism type 11, the most common and clinically significant of them, will enhance detection of primary aldosteronism, currently the commonest specifically treatable and potentially curable form of hypertension. While classic, complete-phenotype presentations of monogenic forms of mineralocorticoid hypertension are rarely recognised, more subtle genetic expression causing less florid manifestations could represent a significant proportion of so-called 'essential hypertension.'