摘要
分析1例原发性肥大性骨关节病(primary hypertrophic osteoarthropathy,PHO)合并原发性甲状旁腺功能亢进症(primary hyperparathyroidism,PHPT)先证者及其家庭成员的临床特征,采集先证者及家系成员的外周血DNA并检测SLCO_(2)A1基因突变。先证者为男性,30岁,父母为近亲婚配。因发现杵状指、头面部皮肤增厚褶皱10余年就诊。影像学检查发现右侧胫骨棕色瘤,实验室检查发现血钙升高、血磷降低、甲状旁腺素升高;经超声和核素检查发现左侧甲状旁腺占位,经手术切除,病理结果示甲状旁腺腺瘤。SLCO_(2)A1基因检测结果显示先证者在6号外显子处发生纯合移码突变(c.830delT),先证者父母为同一位点杂合突变的无症状携带者。结合相关文献探讨PHO的发病机制、临床特征、亚型差异以及本例患者伴发甲状旁腺腺瘤的原因。
To report a case of primary hypertrophic osteoarthropathy(PHO)complicated with primary hyperparathyroidism(PHPT).The clinical characteristics of the proband and his family members was collected.The genomic DNA was extracted from peripheral blood to detect SLCO_(2)A1 gene mutations by Sanger sequencing.The proband was a 30-year-old male whose parents were close relatives.He has clubbing fingers,head and facial pachydermia more than ten years.X-ray examination revealed“brown tumor”of the right tibia.Meanwhile,laboratory examination showed elevated blood calcium,decreased blood phosphorus,and elevated parathyroid hormone levels.Ultrasound and nuclide examination revealed left parathyroid gland occupation,which was surgically removed,and pathological results showed parathyroid adenoma.The results of SLCO_(2)A1 gene detection showed that the proband had homozygous frame shifting mutation(c.830delT)at exon 6,and his parents were heterozygous mutation carriers.In this paper,the pathogenesis,clinical characteristics,differences of PHO subtypes as well as the probable cause of the patient's concomitant parathyroid adenoma were discussed based on relevant literatures.
作者
卢琪
章振林
LU Qi;ZHANG Zhen-lin(Department of Osteoporosis and Bone Disease,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai Clinical Research Center of Bone Disease,Shanghai 200233,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2023年第1期52-59,共8页
Chinese Journal Of Osteoporosis And Bone Mineral Research
