CLINICAL, BIOCHEMICAL AND GENETIC FEATURES OF 5 EXTENDED KINDREDS WITH GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM

Glucocorticoid-suppressible hyperaldosteronism (GSH) is an uncommon fo rm of dominantly inherited hypertension caused by the inheritence of a chimaeric 11 beta-hydroxylase/aldosterone synthase gene. Affected ind ividuals appear to have an increased risk of premature morbidity and m ortality from stroke, but treatment with low doses of dexamethasone ca n completely reverse the biochemical and clinical features. We assesse d the clinical and genetic features of 5 British kindreds with GSH, th e largest collection outwith the United States, and determined the loc ation of the crossover regions in the chimaeric gene of all 5 kindreds . All of the kindreds were of celtic origin, another feature peculiar to GSH. In total 19 out of 60 individuals screened by genotyping were found to possess the chimaeric gene and sequencing of the chimaeric ge ne revealed that all the crossover regions were keeping and three kind reds possessed indistinguishable chimaeric genes.