未经证实:Peutz-Jegers综合征(PJS)是一种常染色体显性遗传性疾病,其特征是整个胃肠道错构瘤性息肉病。纤维蛋白原(Fbg)由肝脏合成,低纤维蛋白原血症通常无症状,并表现为外伤或侵入性外科手术后出血。这里,我们介绍了1例PJS合并低纤维蛋白原血症的儿科患者,其表现为小肠息肉内镜下黏膜切除术(EMR)后消化道出血.
未经证实:一名患有PJS的11岁男孩被转诊到我们医院。自从他母亲被诊断出患有PJS,在他的嘴唇上观察到黑色颜料,嘴,和四肢,他在8岁时在以前的医院接受了上消化道和下消化道内窥镜检查。对十二指肠息肉进行了EMR,病理结果与错构瘤一致。当时他的Fbg水平是117毫克/分升,EMR后未发现出血。在先前的设施中没有对小肠进行评估,并且被忽略了三年。在我们的医院,进行小肠透视检查,发现空肠有息肉,腹部计算机断层扫描显示两个息肉和肠套叠。在双气囊小肠镜检查中,切除的息肉为直径20和30mm的错构瘤。患者的Fbg水平为107mg/dl。EMR后的第二天,他有黑便和黑便。他被诊断为EMR后出血,开始停止进食,并给予止血剂。第二天他的血红蛋白水平下降到9.2g/dl。先天性Fbg缺乏症的基因检测显示,纤维蛋白原γ链外显子10中存在杂合致病变异。因此,他被诊断为并发低纤维蛋白原血症和PJS。
未经授权:据我们所知,这是报告的首例并发PJS和低纤维蛋白原血症的病例.在PJS患者中,低纤维蛋白原血症应被视为息肉切除术后出血的危险因素之一,应采取适当的预防措施。
UNASSIGNED: Peutz-Jegers syndrome (PJS) is an autosomal dominant hereditary disorder characterized by hamartomatous polyposis of the entire gastrointestinal tract. Fibrinogen (Fbg) is synthesized by the liver, and
hypofibrinogenemia is often asymptomatic and manifests with bleeding after trauma or invasive surgical procedures. Here, we present a
case of a pediatric patient with PJS and
hypofibrinogenemia who manifested with gastrointestinal bleeding after endoscopic mucosal resection (EMR) of small intestinal polyps.
UNASSIGNED: An 11-year-old boy with PJS was referred to our hospital. Since his mother was diagnosed with PJS, with black pigments being observed on his lips, mouth, and limbs, he underwent upper and lower gastrointestinal endoscopy at the age of 8 years at a previous hospital. EMR for duodenal polyp was performed, and the pathological findings were consistent with hamartoma. His Fbg level was 117 mg/dl at the time, with no post-bleeding being detected after EMR. The small intestine was not assessed at the prior facility and was left neglected for three years. At our hospital, small intestine fluoroscopy was performed and revealed a polyp in the jejunum, and abdominal computed tomography showed two polyps and intussusception. On double-balloon enteroscopy, the resected polyps were hamartoma with diameters of 20 and 30 mm. The patient\'s Fbg level was 107 mg/dl. The day after EMR, he had melena and black stools. He was diagnosed with post-EMR bleeding and started to stop eating, and hemostatic agents were given. His hemoglobin level dropped to 9.2 g/dl the next day. Genetic testing for congenital Fbg deficiency revealed a heterozygous pathogenic variant in fibrinogen gamma chain Exon 10. Therefore, he was diagnosed with concurrent
hypofibrinogenemia and PJS.
UNASSIGNED: To the best of our knowledge, this is the first reported
case with concurrent PJS and
hypofibrinogenemia. In patients with PJS, hypofibrinogenemia should be considered as one of the risk factors of postoperative bleeding during polypectomy, and appropriate prophylactic measures should be taken.