Pathophysiology and diagnosis of disorders of the adrenal medulla: focus on pheochromocytoma.

摘要: The principal function of the adrenal medulla is production and secretion catecholamines. During stressful challenging conditions, catecholamines exert a pivotal homeostatic role. Although main adrenomedullary catecholamine, epinephrine, has wide array adrenoreceptor-mediated effects, its absence does not cause life-threatening problems. In contrast, excess due to an tumor, specifically pheochromocytoma, results in significant morbidity mortality. Despite being rare, pheochromocytoma notoriously bad reputation because potential devastating effects if undetected untreated. paroxysmal signs symptoms risks missing or delaying diagnosis are well known for most physicians. Nevertheless, even today still overlooked considerable number patients. Prevention complete cure however possible by early appropriate treatment but these patients remain challenge Yet, biochemical proof presence catecholamine become more easy straightforward developments assay methodology. This also applies radiological functional imaging techniques locating tumor. importance genetic testing underlying germline mutations susceptibility genes relatives increasingly recognized. effectiveness testing, terms costs benefits health, been definitively established. Further improvement knowledge genotype-phenotype relationships will open new avenues rationalized personalized diagnostic approach affected