Watanabe Sumiyo, Uchida Shunya
Division of Endocrinology and Nephrology, Department of Medicine, University of Tokyo School of Medicine.
Nihon Rinsho. 2006 Feb;64 Suppl 2:504-7.
Bartter's syndrome was reported in 1962, and Gitelman's syndrome, which is subtype of Bartter's syndrome was described later. These syndromes are characterized by hypokalemia, hypochloremic metabolic alkalosis, normal to low blood pressure, although they show hyperreninemia, and hyperaldosteronemia. The cause of these diseases have been unexplained for a long time. Recently however, from 1996 to 2002, several causes have identified. Bartter's syndrome can occur due to a loss of function mutation in NKCC2, ROMK, CLC-Kb and barttin, or a gain of function mutation of calcium-sensing receptor. Gitelman's syndrome can occur due to a loss of function mutation in NCC. Different causes need different treatment and have different prognosis. In fact, we cannot examine all DNA sequences in regular hospitals. So it is our goal to make a clinical diagnostic standard to appropriate treatment.
巴特综合征于1962年被报道，吉特林综合征作为巴特综合征的一种亚型随后被描述。这些综合征的特征是低钾血症、低氯性代谢性碱中毒、血压正常或偏低，尽管它们表现为高肾素血症和高醛固酮血症。这些疾病的病因长期以来一直未得到解释。然而，最近，从1996年到2002年，已经确定了几种病因。巴特综合征可能由于NKCC2、ROMK、CLC-Kb和barttin功能丧失突变，或钙敏感受体功能获得性突变而发生。吉特林综合征可能由于NCC功能丧失突变而发生。不同的病因需要不同的治疗方法，预后也不同。事实上，我们无法在普通医院检测所有的DNA序列。因此，制定一个合适治疗的临床诊断标准是我们的目标。
