Rolim Ana Luiza R, Lindsey Susan C, Kunii Ilda S, Fujikawa Aline M, Soares Fernando A, Chiamolera Maria Izabel, Maciel Rui M B, Silva Magnus R Dias da
Laboratório de Endocrinologia Molecular e Translacional, Departamento de Medicina, Universidade Federal de São Paulo, Escola Paulista de Medicina, SP, Brazil.
Arq Bras Endocrinol Metabol. 2010 Nov;54(8):673-81. doi: 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, Ca(2+)-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 hypocalcemia, 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.
离子通道具有多种细胞功能，主要参与细胞信号转导。在内分泌细胞中，这些通道在激素分泌、钙介导的细胞信号传导、跨上皮运输、细胞运动和生长、容积调节以及细胞离子含量和溶酶体腔室酸化等方面发挥着重要作用。离子通道功能障碍可导致内分泌紊乱或内分泌相关表现，如1型假性醛固酮增多症、利德尔综合征、巴特综合征、婴儿持续性高胰岛素血症性低血糖症、新生儿糖尿病、囊性纤维化、登特病、继发性低钙血症伴低镁血症、肾性尿崩症，以及最近通过基因鉴定的通道病——甲状腺毒症性低钾周期性麻痹。本综述简要概述了内分泌细胞中的膜动作电位，并简要介绍了已知的内分泌通道病，重点关注病理生理机制和功能基因缺陷方面的最新进展。
