摘要
患者因动脉导管未闭入心内科就诊,查体时发现患者杵状指明显,并且不能用动脉导管未闭的血流动力紊乱解释。结合患者杵状指发病年龄较早,同时存在明显的面部皮肤增厚、皱褶、痤疮、关节疼痛、腹泻、稀便等症状,考虑患者为原发性肥大性骨关节病。进一步行基因检测,发现患者HPGD基因突变,明确诊断为原发性肥大性骨关节病1型。由于大部分肥大性骨关节病患者多由心肺疾病等因素引起,因此该患者容易误诊为继发性肥大性骨关节病,具有一定的警示作用。检索文献发现,国外有数例动脉导管未闭并发原发性肥大性骨关节病的患者,提示两种疾病可能具有共同的致病基因,为基础研究提供线索。
The patient was admitted to the Department of Cardiology due to patent ductus arteriosus. During the physical examination, it was found that the clubbing fingers were obvious and could not be explained by the hemodynamic disorder of patent ductus arteriosus. Key features of the patient included clubbing fingers （ at a young age） , joint pain, diarrhea, dilute defecation and skin changes, such as pachydermia, abnormal furrowing, seborrhea, and hyperhidrosis. Thus, the patient should be considered as primary hypertrophic osteoarthropathy. For further gene detection, the HPGD gene mutation was found in the patient, and it was clearly to be diagnosed as type 1 primary hypertrophic osteoarthropathy. Since most hypertrophic osteoarthropathy is secondary to cardiopulmonary diseases and other factors, this case was easy to be misdiagnosed as secondary hypertrophic osteoarthropathy. Thus, it is necessary to report this case. Some patients of patent ductus arteriosus coexisting with primary hypertrophic osteoarthropathy were found in literature. It suggested that two kinds of disease might have common pathogenic genes and this provided clues for basic research.
作者
崔冉
张悠扬
曲伸
盛辉
CUI Ran;ZHANG You-yang;QU Shen;SHENG Hui(Departmen of Endocrinology ＆ Metabolism,Shanghai Tenth People＇s Hospital of Tongji University,School of Medicine,Shanghai 200072,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2018年第5期484-488,共5页
Chinese Journal Of Osteoporosis And Bone Mineral Research
基金
国家自然科学基金(81500650)
关键词
原发性肥大性骨关节病
继发性肥大性骨关节病
动脉导管未闭
杵状指
primary hypertrophic osteoarthropathy
secondary hypertrophic osteoarthropathy
patent ductus arteriosus
clubbing fingers
