Gitelman综合征伴自身免疫甲状腺疾病的临床特点与基因型分析

Clinical feature and genetic analysis of Gitelman＇s syndrome accompanied by autoimmune thyroid disease

目的探讨Gitelman综合征（GS）与自身免疫甲状腺疾病相关性。方法回顾性观察了9例Gs患者的血尿电解质、肾素-血管紧张素-醛固酮系统及甲状腺功能水平。PCR扩增钠氯共同转运体（NCCT）的26个外显子，PCR产物纯化后直接测序。1例患者及其亲属的突变位点应用限制性片段长度多态性（RFLP）分析。结果9例患者实验室检查均表现为典型的Gs，如低血钾、低血镁、低尿钙，血压正常或降低。其中3例患者均伴发自身免疫甲状腺疾病。6种NCCT基因突变被发现，但2例患者未检测到任何突变位点。未发现与甲状腺疾病相关的突变。结论基因检测是诊断Gs的有效工具．提示GS可能倾向伴发自身免疫甲状腺疾病。

Objective To explore relationship between Gitelman＇s syndrome （GS） and autoimmune thyroid disease. Methods Serum and urinary electrolytes, plasma renin activity, aldosterone, angiotensin II, and thyroid function in 9 patients with GS were determined. 26 exons encoding sodium chloride cotransporter （NCCT） were amplified by PCR, completely sequenced by the direct sequencing method, and analyzed for the mutations of NCCT gene in those patients. Finally, restriction fragment length polymorphism was performed in one patient and her family members. Results Those patients presented laboratory findings typical of GS, such as hypokalemia, hypomagnesemia, hypocalciuria, and all were normotensive or hypotensive. Angiotensin II level was high in all nine GS patients. Interestingly, three of these patients were accompanied by autoimmune thyroid disease. Six NCCT gene mutations were identified. However, two patients did not show any mutation. No thyroid disease-related gene mutation in NCCT was found. Conclusion Gene detection is a useful tool for the diagnosis of GS. Patients with GS seem to be prone to accompaniment of autoimmune thyroid disease.