探讨Liddle综合征、Gitelman综合征的临床特点、诊断思路及基因检测的必要性。

回顾性分析济宁市第一人民医院内分泌科收治的2例低钾血症患者临床资料，完善相关检查及基因检测。

患者1肢体乏力进行性加重，血钾2.2 mmol/L，血钠148 mmol/L，血压最高178/110 mmHg(1 mmHg＝0.133 kPa)，父母均患高血压病。基因检测发现患者携带SCNN1B基因c.1783_1784insT(p.Ala595ValfsTer13)移码突变，确诊为Liddle综合征；患者2发作性四肢抽搐，血钾2.74 mmol/L，血镁0.64 mmol/L，血压97/75 mmHg，基因检测发现SLC12A3基因c.536T>A(p.Val179Asp)、c.1763C>T(p.Ala588Val)错义突变，确诊为Gitelman综合征。

Liddle综合征、Gitelman综合征是临床上导致低钾血症的罕见疾病，其临床表现有时并不明显，基因检测是重要确诊手段，并且有助于靶向治疗。本研究通过基因检测发现SCNN1B、SLC12A3基因新的突变位点。

To discuss the clinical features, diagnostic ideas, and the need for genetic testing of Liddle syndrome and Gitelman syndrome.

Retrospectively analyzing 2 patients with hypokalemia in Endocrinology Department of the First People′s Hospital of Jining, including clinical manifestations, relevant examination improvement, and gene detection.

Patient 1 had progressive aggravation of limb weakness, serum potassium 2.2 mmol/L, serum sodium 148 mmol/L, the highest blood pressure 178/110 mmHg(1 mmHg=0.133 kPa), and both parents suffered from hypertension. Gene detection showed that the patient had a frameshift mutation of SCNN1B gene c. 1783_1784insT(p.Ala595ValfsTer13). The patient was diagnosed with Liddle syndrome. Patient 2 had paroxysmal limb convulsions, serum potassium 2.74 mmol/L, serum magnesium 0.64 mmol/L, and blood pressure 97/75 mmHg. Gene detection revealed missense mutations of SLC12A3 gene c. 536T>A(p.Val179Asp), c. 1763C>T(p.Ala588Val), and the patient was diagnosed with Gitelman syndrome.

Liddle syndrome and Gitelman syndrome are rare diseases that lead to hypokalemia clinically, and their clinical manifestations are sometimes not obvious. Gene detection is an important diagnostic tool that aids in targeted treatment. Gene detection was used in this study to discover new mutant sites in the SCNN1B and SLC12A3 genes.