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Arquivos Brasileiros de Endocrinologia & Metabologia
versión impresa ISSN 0004-2730
ROLIM, Ana Luiza R. et al. Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights. Arq Bras Endocrinol Metab [online]. 2010, vol.54, n.8, pp. 673-681. ISSN 0004-2730. http://dx.doi.org/10.1590/S0004-27302010000800002.
Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume regulation and cellular ionic content and acidification of lysosomal compartments. Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, Liddle syndrome, Bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, Dent's disease, hypomagnesemia with secondary hipocalcemia, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis. This review briefly recapitulates the membrane action potential in endocrine cells and offers a short overview of known endocrine channelopathies with focus on recent progress regarding the pathophysiological mechanisms and functional genetic defects.
Palabras clave : Ion channel; channelopathy; endocrine channelopathy.