Zhong Mei, Zhai Zhenwei, Zhou Xing, Sun Jingxia, Chen Hui, Lu Wensheng
Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of China.
Department of Endocrinology, Tongde Hospital of Yuncheng, Changzhi Medical College, Shanxi, People's Republic of China.
Int J Gen Med. 2021 May 24;14:1999-2002. doi: 10.2147/IJGM.S308246. eCollection 2021.
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of gene in a patient with a clinical suspicion of GS.
Clinical work-up including clinical examination, electrocardiography (ECG), chest X-ray, bone mineral density (BMD), and ultrasound examination was conducted and all exons of gene were analyzed by whole-exome sequencing.
The patient showed hypokalemia, hypomagnesemia, and metabolic alkalosis and was found to have four novel homozygous missense mutations including one known mutation (c.1456 G>A in exon 12) and three novel mutations (c.366A > G in exon 2, c.791C > G in exon 6 and c.1027C > T in exon 8).
Four mutation sites of gene were found in the patient, three of which have not been reported before. These results may be useful for better understanding the function of this gene and can assist clinicians with treatment decision-making.
吉特曼综合征（GS）是一种常染色体隐性疾病，其特征为低钾血症性代谢性碱中毒。在本研究中，我们对一名临床怀疑为GS的患者进行了临床表现调查，并对该基因的26个外显子进行了测序。
进行了包括临床检查、心电图（ECG）、胸部X线、骨密度（BMD）和超声检查在内的临床检查，并通过全外显子测序分析了该基因的所有外显子。
该患者表现为低钾血症、低镁血症和代谢性碱中毒，发现有四个新的纯合错义突变，包括一个已知突变（外显子12中c.1456 G>A）和三个新突变（外显子2中c.366A>G、外显子6中c.791C>G和外显子8中c.1027C>T）。
在该患者中发现了该基因的四个突变位点，其中三个此前未见报道。这些结果可能有助于更好地理解该基因的功能，并可协助临床医生进行治疗决策。
