背景:淀粉样变,一种以错误折叠蛋白质积累为特征的系统性疾病,由于其广泛的症状,是一个重大的诊断挑战。淀粉样变性的症状取决于受影响的器官。肾脏中淀粉样蛋白的积累通常表现为蛋白尿或肾功能受损。而胃肠道(GI)受累的病例表现为腹痛,减肥,或者消化道出血.
方法:我们报告了一例涉及结肠和肾脏的全身性免疫球蛋白轻链(AL)淀粉样变性病例,该病例表现为间歇性下腹痛和便血。结肠镜检查发现多发性溃疡和粘膜下血肿,并通过活检证实有κ轻链沉积。病人有很多合并症,包括肾结核,慢性肾病,糖尿病,冠心病,阵发性心房颤动,这使她的临床表现令人困惑。在硼替佐米和地塞米松治疗4个周期期间,她的病情相对稳定。
结论:系统性淀粉样变性通常预后较差,因为大多数病例是在疾病晚期发现的。疾病的早期检测取决于对疾病的全面了解和对病变的敏锐识别。我们建议在便血患者中,结肠溃疡,和粘膜下层血肿,当排除其他疾病时,应考虑与结肠受累的淀粉样变性。
Amyloidosis, an systemic disorder featuring an accumulation of misfolded proteins, is a significant diagnostic challenge because of its broad range of symptoms. The symptoms of amyloidosis vary depending on the affected organs. Amyloid accumulation in the kidney generally manifests as proteinuria or impaired kidney function, whereas cases with gastrointestinal (GI) involvement present as abdominal pain, weight loss, or GI bleeding.
We report a case of systemic immunoglobulin light chain (AL) amyloidosis involving the colon and kidney in a 75‑year‑old female who presented with intermittent lower abdominal pain and hematochezia. A colonoscopy revealed multiple ulcerations and a submucosal hematoma with κ light chain deposition confirmed by biopsy. The patient had many comorbidities, including renal tuberculosis, chronic kidney disease, diabetes, coronary heart disease (CHD), and paroxysmal atrial fibrillation, which rendered her clinical manifestations confusing. Her condition was relatively stable during treatment with bortezomib and dexamethasone for 4 cycles.
Systemic amyloidosis usually has a poor prognosis since most cases are detected in the late disease phase. Early disease detection depends on a comprehensive understanding of the disease and a keen recognition of the lesion. We suggest that in patients with hematochezia, colonic ulcer, and submucosa hematoma, amyloidosis with colonic involvement should be considered when other diseases are excluded.