Li Xueting, Chen Ruofei, Chen Mingwei
Department of Endocrinology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China.
Department of Rheumatology and Immunology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China.
Case Rep Med. 2020 Oct 24;2020:6263721. doi: 10.1155/2020/6263721. eCollection 2020.
The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword "Gitelman syndrome" was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.
本研究报告了3例中国吉特曼综合征（GS）患者的临床特征及基因突变分析结果。3例患者均表现为血压正常、反复低钾血症和代谢性碱中毒。仅病例2有明显低镁血症。基因测序显示病例1的SCL12A3存在复合杂合突变，病例2的SCL12A3存在纯合突变。病例3发现SCL12A3和CLCNKB存在杂合突变。然后，对文献进行了回顾。将关键词“吉特曼综合征”输入PubMed、万方数据库和中国知网，检索所有经基因突变诊断的中国GS患者，并提取1998年12月至2018年的完整临床资料。最终，共纳入124例GS患者。不同基因突变患者的血清钾和镁水平无显著差异，且成人血清镁水平低于青少年。低血镁型GS临床表型严重。因此，GS表型多样，最终诊断需要基因分型。基因突变与临床表型的关系有待进一步研究。
