假性甲状旁腺功能减退症并Bartter综合征一例报告  

Pseudohypoparathyroidism with Bartter syndrome:a case report

作　　者：张颖[1] 王覃[1] 杨敏[1] 伍寅琼 ZHANG Ying;WANG Qin;YANG Min;WU Ying-qiong(Department of Endocrinology and Metabolism,West China Hospital of Sichuan University,Chengdu 610041,Sichuan,China)

机构地区：[1]四川大学华西医院内分泌科,成都610041

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2023年第6期591-594,共4页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：报告1例假性甲状旁腺功能减退症并Bartter综合征患者的临床特征及遗传学资料,并复习相关文献。患者主要表现为发作性上肢搐搦伴全身乏力,多次实验室检查结果提示低血钙、低血钾、高甲状旁腺素。补钾后全身乏力症状好转,补钙及维生素D后,血钙升高,上肢搐搦症状改善明显。GNAS甲基化异常检测提示患者NESP55、GNAS-AS1、GNASXL及GNASA/B区域存在甲基化异常,诊断假性甲状旁腺功能减退症。患者入院后完善检查提示血钾低、血镁正常、24 h尿钾高,高肾素活性,但非同日多次测量血压均在正常范围,提示肾性失钾。全外显子检测提示患者携带SLC12A1基因突变,其基因型为c.3027(exon27)G>T(P.L1069F),Bartter综合征可能性大。此例患者最终诊断假性甲状旁腺功能减退症合并Bartter综合征。This article reports the clinical features and genetic profile of a patient with pseudohypoparathyroidism combined with Bartter syndrome and reviews the relevant literature.The patient presented with episodic tetany of the upper limbs with generalized fatigue,and the laboratory tests suggested hypocalcemia,hypokalemia,and high level of parathyroid hormone.After potassium supplementation,the symptoms of generalized weakness improved.After calcium and vitamin D supplementation,the blood calcium level increased,and the symptoms of upper limb tetany significantly improved.GNAS methylation abnormality test suggested that the patient had methylation abnormality in NESP55,GNAS-AS1,GNASXL,and GNASA/B,leading to the diagnosis of pseudohypoparathyroidism.Upon admission,the patient exhibited comprehensive examination results indicative of low blood potassium,normal blood magnesium,elevated 24-hour urinary potassium excretion,and high renin activity.However,multiple blood pressure measurements taken on different days consistently fell within the normal range,suggesting renal potassium loss.Whole exon testing suggested that the patient carried a mutation in c.3027(exon27)G>T(P.L1069F)of SLC12A1 gene.Bartter syndrome is a probable consideration.The ultimate diagnosis for this patient was determined to be pseudohypoparathyroidism with Bartter syndrome.

关 键 词：假性甲状旁腺功能减退症 BARTTER综合征 甲基化 

分 类 号：R582[医药卫生—内分泌]