| 摘要: |
| Gitelman综合征(GS)是一种相对罕见的常染色体隐性遗传病，主要表达钠钾泵蛋白SLC12A3基因突变后导致编码的蛋白改变而致病。主要表现为低血钾、代谢碱中毒的症状，其中低血镁和低尿钙最具诊断意义。除了SLC12A3基因的突变，近来研究发现CLCNKB基因突变、自身免疫性疾病等都可能导致GS。SLC12A3基因的突变位点及突变类型较多，GS患者在遗传学、临床表现和生化指标等方面具有明显的个体化差异，给临床工作带来了挑战。本文将会从该病的流行病学、病因、表现型的影响因素、诊断及治疗等方面进行综述，以期提高对罕见病的诊治水平。 |
| 关键词: Gitelman综合征 流行病学 病因 基因突变 表现型 诊断 治疗 |
| DOI： |
| 分类号: |
| 基金项目:国家自然科学基金资助项目(编号：30860113、81560044) |
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| Research progress of Gitelman syndrome |
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zhai zhen wei
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Changzhi Medical College ，Yuncheng Tongde Hospital
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| Abstract: |
| Gitelman syndrome (GS) is a relatively rare autosomal recessive inherited disease. It mainly expresses the sodium-potassium pump protein SLC12A3 gene mutation and causes the encoded protein to change.Mainly manifested as symptoms of hypokalemia and metabolic alkalosis,among which hypomagnesium and hypocalcemia are the most diagnostic. In addition to mutations in the SLC12A3 gene, recent studies have found that CLCNKB gene mutations, autoimmune diseases, etc. may all cause GS. SLC12A3 gene has many mutation sites and mutation types, GS patients have obvious individual differences in genetics, clinical manifestations, and biochemical indicators, which brings challenges to clinical work. This article will review the disease's epidemiology, etiology, phenotypic factors, diagnosis and treatment, etc., in order to improve the level of diagnosis and treatment of rare diseases. |
| Key words: Gitelman syndrome,Epidemiology,Cause,Gene mutation,Phenotype,diagnosis,treatment |
