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Article

[A case of Gitelman syndrome with physical retardation].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Oct 2017

Huang Juan, Zheng Xiangrong, Guo Dandan, Zhang Guoyuan, Wang Xia, Liu Chentao

Abstract excerpt

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...

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Identifiers

PMID: 29093260
DOI: 10.11817/j.issn.1672-7347.2017.10.019

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