1例原发性肥大性骨关节病合并结肠腺瘤和癫痫的报道
A Report on a Case of Primary Hypertrophic Osteoarthropathy Complicated with Colonic Adenoma and Epilepsy
DOI: 10.12677/acm.2025.15113359, PDF,    科研立项经费支持
作者: 刘安杰*：济宁医学院临床医学院，山东 济宁；温丽民：北京卫戍区第六离职干部休养所，北京；王 琳, 夏 敏#：济宁医学院附属医院神经内科，山东 济宁
关键词: 原发性肥大性关节病；结肠腺瘤；HPGD；Primary Hypertrophic Osteoarthropathy； Colonic Adenoma； HPGD
摘要: 通过报道一例罕见的原发性肥大性骨关节病(PHO)合并结肠腺瘤的患者的临床特点及诊疗经过，以提高临床对该病的认识。在本病例中，我们介绍了一位60岁男性，2岁左右出现头面部皮肤结节状增厚，杵状指\趾，骨膜增厚，未行正规诊治，此次因癫痫发作入院，既往结肠腺瘤手术史，根据患者的病史和临床检查结果，进行了基因检测。发现存在HPGD基因C.310-311del:p.L104fs移码突变。结合相关文献探讨PHO的临床特征及本例患者伴发结肠腺瘤的原因。
Abstract: By reporting the clinical characteristics, diagnosis and treatment process of a rare case of primary hypertrophic osteoarthropathy (PHO) complicated with colonic adenoma, the aim is to enhance the clinical understanding of this disease. In this case, we present a 60-year-old male who developed nodular thickening of the skin on his head and face, club-like fingers and toes, and thickened periosteum at the age of 2. He did not receive formal treatment. This time, he was admitted to the hospital due to epileptic seizures and had a previous history of colon adenoma surgery. Based on the patient’s medical history and clinical examination results, genetic testing was conducted. A frameshift mutation of C.310-311del:p.L104fs in the HPGD gene was discovered. Based on relevant literature, the clinical characteristics of PHO and the causes of colonic adenoma in this patient were explored.
文章引用：刘安杰, 温丽民, 王琳, 夏敏. 1例原发性肥大性骨关节病合并结肠腺瘤和癫痫的报道[J]. 临床医学进展, 2025, 15(11): 2369-2375. https://doi.org/10.12677/acm.2025.15113359

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