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吉特曼综合征
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吉特曼综合征
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Gitelman syndrome
吉特曼综合征
由SLC12A3基因突变引起的常染色体隐性遗传性疾病。为最常见的遗传性肾小管疾病之一。以低钾性代谢性碱中毒为主要特征,同时伴有低血镁、低钙尿症。又称家族性低钾低镁血症。
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