以骨骼畸形首诊的假性甲状旁腺功能减退症一例报告  

Pseudohypoparathyroidism initially presenting with skeletal deformities:a case report

作　　者：丁玲 蒋晓红[1] DING Ling;JIANG Xiao-hong(Department of Endocrinology,The First People's Hospital of Changzhou,Changzhou,Jiangsu 213003,China)

机构地区：[1]常州市第一人民医院内分泌科,江苏常州213003

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第4期363-370,共8页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家重点研发计划发育编程及其代谢调节重点专项(2022YFA0807300);江苏省卫生健康委员会老年健康科研课题(LKM2022050);常州市医学重点学科项目(CZXK202201)。

摘　　要：回顾性分析1例不典型假性甲状旁腺功能减退症(pseudohypoparathyroidism,PHP)患者的临床资料及诊疗过程,并进行相关文献复习。患者幼时起病,反复骨骼畸形,既往曾诊断为佝偻病,不规律服用钙剂及维生素D(Vitamin D,Vit D)史,矫形手术效果不佳。近期因肢体乏力发现高血压、低血钾。入院反复实验室检查示低血钙、正常血磷、高甲状旁腺激素、高肾素、低血钾,肾性失钾,予Vit D试验性治疗5 d,血钙改善不明显,血磷下降,尿磷增加,行全外显子检测提示GNAS基因突变,最终诊断PHP,建议此类临床特征特殊的患者应及时行基因检测以明确诊断。This article retrospectively analyzes the clinical data and diagnostic process of a patient with atypical pseudohypoparathyroidism(PHP)and reviews the relevant literature.The patient presented with recurrent skeletal deformities since infancy and was previously misdiagnosed with rickets.He was irregularly treated with calcium supplements and vitamin D with a poor outcome of orthopedic surgery.Recently he was admitted complaining of limb weakness and was diagnosed with hypertension and hypokalemia.Laboratory tests revealed low blood calcium,normal blood phosphorus,high parathyroid hormone,high renin,low blood potassium,and renal loss of potassium.Despite experimental vitamin D therapy for five days,the patient's blood calcium levels were not significantly improved,and there was a decrease in blood phosphate and an increase in urinary phosphate.Whole exon testing suggested that the patient carried a GNAS gene mutation,leading to the final diagnosis of PHP.It is recommended that patients with such untypical clinical features undergo timely genetic testing for accurate diagnosis.

关 键 词：假性甲状旁腺功能减退症 骨骼畸形 低血钾 高血压 血磷 

分 类 号：R582[医药卫生—内分泌]