Huang Juan, Zheng Xiangrong, Guo Dandan, Zhang Guoyuan, Wang Xia, Liu Chentao
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2017 Oct 28;42(10):1236-1238. doi: 10.11817/j.issn.1672-7347.2017.10.019.
Gitelman syndrome is a rare disease. It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms. A girl with long-term hypokalemia, who presented with intermittent pain of lower limb muscle and physical retardation, was treated in Xiangya Hospital, Central South University. Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis. Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome. Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis. Gene therapy is expected to be the most effective treatment for this disease.
吉特林综合征是一种罕见疾病。由于临床症状多样，该病容易被误诊和漏诊。一名长期低钾血症的女孩，出现下肢肌肉间歇性疼痛和身体发育迟缓，在中南大学湘雅医院接受治疗。实验室检查证实存在严重低钾血症和代谢性碱中毒。基因测序显示SLC12A3基因突变，该患者最终被诊断为吉特林综合征。慢性低钾血症和代谢性碱中毒患者需要进行基因测序以确诊。基因治疗有望成为该病最有效的治疗方法。
