Oba Takeshi, Kobayashi Shunsuke, Nakamura Yuko, Nagao Mototsugu, Nozu Kandai, Fukuda Izumi, Iijima Kazumoto, Sugihara Hitoshi
Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School.
Department of Pediatrics, Kobe University Graduate School of Medicine.
J Nippon Med Sch. 2019 Dec 3;86(5):301-306. doi: 10.1272/jnms.JNMS.2019_86-505. Epub 2019 May 17.
A 21-year-old man presented with hyperthyroidism and hypokalemia and was treated for thyrotoxic hypokalemic periodic paralysis caused by Graves' disease. Thyroid function soon normalized but hypokalemia persisted. Laboratory data revealed hyperreninemic hyperaldosteronism and metabolic alkalosis consistent with Gitelman Syndrome. The patient was found to have a previously unreported compound heterozygous mutation of T180K and L858H in the SLC12A3 gene, and Gitelman Syndrome was diagnosed. He was started on eplerenone to control serum potassium level. Alternative diagnoses should be considered when electrolyte imbalances persist after disease resolution.
一名21岁男性因甲状腺功能亢进和低钾血症就诊,被诊断为格雷夫斯病所致的甲状腺毒症性低钾性周期性麻痹并接受治疗。甲状腺功能很快恢复正常,但低钾血症持续存在。实验室检查数据显示高肾素性醛固酮增多症和代谢性碱中毒,符合吉特曼综合征。该患者被发现SLC12A3基因存在先前未报道的T180K和L858H复合杂合突变,确诊为吉特曼综合征。开始使用依普利酮控制血清钾水平。疾病缓解后电解质失衡仍持续存在时,应考虑其他诊断。