摘要
本文报道1例SLC12A3基因变异的Gitelman综合征(Gitelman syndrome,GS)合并无症状型原发性甲状旁腺功能亢进症(asymptomatic primary hyperparathyroidism,aPHPT)患者。一名63岁女性因四肢乏力15年来诊,化验检查提示有低钾血症、低镁血症、代谢性碱中毒、低磷血症,血钙和甲状旁腺激素(parathyroid hormone,PTH)明显升高,尿钙正常,患者除偶尔有夜间阵发性肌肉痉挛,无恶心、骨痛、血尿等其他临床表现。基因测序发现在SLC12A3基因1号外显子发生c.197C>T(p.T60M)杂合突变,9号外显子发生c.1115C>T(p.P372L)杂合突变确诊为GS。结合该患者的临床表现和化验检查,该患者诊断为GS合并aPHPT。
This article reports a case of Gitelman syndrome(GS)with SLC12A3 gene mutations and asymptomatic primary hyperparathyroidism(aPHPT).A 63-year-old female often experienced lacking in strength for fifteen years was admitted to our hospital.Laboratory tests showed hypokalemia,hypomagnesaemia,metabolic alkalosis,hypophosphatemia,while the level of Ca and parathyroid hormone(PTH)were increased,the urinary calcium were normal.The patient had no other clinical manifestations such as nausea,bone pain or hematuria except occasional muscle spasm at night.Gene sequencing revealed heterozygous mutations of c.197C>T(p.T60M)and c.1115C>T(p.P372L)separately in exon 1 and exon 9 of SLC12A3 gene,therefore the patient was confirmed with GS.Based on the clinical manifestations and laboratory tests of the patient,it is considered that the patient suffering from GS combined with aPHPT.
作者
陈健
于晓会
王晓黎
李玉姝
单忠艳
CHEN Jian;YU Xiao-hui;WANG Xiao-li;LI Yu-shu;SHAN Zhong-yan(Department of Endocrinology and Metabolism,Institute of Endocrinology,NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases,The First Affiliated Hospital of China Medical University,Shenyang 110001,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2024年第2期155-160,共6页
Chinese Journal Of Osteoporosis And Bone Mineral Research
