CAJ | 학술논문

目的：儿童Gitelman 综合征（Gitelman Syndrome， GS）是一种由编码肾脏远曲小管钠-氯协同转运蛋白（Na-Cl cotransporter， NCCT）的SLC12A3基因突变引起的疾病。文中旨在探讨基因突变在鉴别诊断儿童GS中的意义。方法收集2例诊断为GS的儿童，采用一代测序法及多重连接探针扩增技术（ multiplex ligation-dependent probe amplification ， MPLA）对基因突变位点进行研究。结果2例患儿基因检测发现1例男性患儿存在SLC12A3基因的复杂杂合突变即c．1964G＞A， p．（Arg655His）联合8号外显子缺失突变；1例女性患儿存在SLC12A3基因的2个杂合突变即c．2543A＞T，p．（Asp848Val）和c．976delG，p．（Val326fs）突变；其中8号外显子缺失突变和c．2543A＞T，p．（Asp848Val）突变为发现的新突变位点。结论基因诊断是重要确诊手段，儿科医师需要提高认识，以防漏诊及误诊。
목적：인동Gitelman 종합정（Gitelman Syndrome， GS）시일충유편마신장원곡소관납-록협동전운단백（Na-Cl cotransporter， NCCT）적SLC12A3기인돌변인기적질병。문중지재탐토기인돌변재감별진단인동GS중적의의。방법수집2례진단위GS적인동，채용일대측서법급다중련접탐침확증기술（ multiplex ligation-dependent probe amplification ， MPLA）대기인돌변위점진행연구。결과2례환인기인검측발현1례남성환인존재SLC12A3기인적복잡잡합돌변즉c．1964G＞A， p．（Arg655His）연합8호외현자결실돌변；1례녀성환인존재SLC12A3기인적2개잡합돌변즉c．2543A＞T，p．（Asp848Val）화c．976delG，p．（Val326fs）돌변；기중8호외현자결실돌변화c．2543A＞T，p．（Asp848Val）돌변위발현적신돌변위점。결론기인진단시중요학진수단，인과의사수요제고인식，이방루진급오진。
Objective Gitelman Syndrome is a disease caused by the mutation of Na-Cl cotransporter gene(SLC12A3).The article studied the significance of diagnosis and identification by genetic mutation. Methods We collected the clinical data, then we sequenced the SLC12A3 gene by the first sequencing technology and MLPA. Results SLC12A3 complicated heterozygotic mutation was observed.One of them showed c.1964G>A, p.(Arg655His) and exon 8 deletion mutation, the other showed c.2543A>T, p.(Asp848Val) and c.976delG, p.(Val326fs) mutation of SLC12A3 gene in children. Conclusion The final diagnosis depended on gene diagnosis. Pediatrician must recognize the manifestations to advoid misdiagnosis.