Gardner综合征1例报道

Gardner syndrome:A case report

背景Gardner综合征是常染色体显性遗传病,主要表现为多发性胃肠道息肉、软组织肿瘤和骨瘤.它比较罕见,相关报道较少,但其恶变率高,因此对该病有全面认识对治疗具有重要意义.病例简介我们报告1例被确诊为Gardner综合征的39岁男性患者,因贫血、黑便4月余,伴恶心呕吐20天来院诊治.胃肠镜检查发现胃肠道多发息肉,息肉活检病理证实该疾病诊断,我院医生即对其行内镜下治疗,患者术后恢复良好,黑便症状缓解,贫血症状也有所改善.结论Gardner综合征的临床表现复杂,因此要求医生能更加敏锐地将患者临床表现与影像学和病理检查结果相结合,尽早诊断和治疗,使病情得到有效的控制,改善疾病预后.

BACKGROUND Gardner syndrome is a special subtype of familial adenomatous polyposis(FAP)and it is an autosomal dominant genetic disease mainly characterized by multiple gastrointestinal polyps,soft tissue tumors,and osteomas.It is a rare disease,and there are few relevant reports about it.However,the malignant transformation rate of Gardner syndrome is high.Therefore,understanding of its main clinical features,and early examination and timely discovery are of great significance for its treatment.CASE SUMMARY We report the case of a 39-year-old man diagnosed with Gardner syndrome who presented with anemia and melena for more than 4 mo,along with nausea and vomiting for more than 20 d.Gastrointestinal endoscopy revealed multiple polyps in the gastrointestinal tract and polyp biopsy pathology confirmed the diagnosis.Endoscopic treatment was performed,and the patient had no postoperative discomfort.Finally,his condition improved.CONCLUSION The clinical manifestations of Gardner syndrome are complex.The combination of clinical manifestations with relevant imaging and pathological examination results can help achieve early diagnosis and early treatment.Early treatment is usually associated with a good prognosis.