第一临床医学院知识库

目的:探讨系统性轻链型（AL）淀粉样变性的临床表现以及诊治流程，提高对AL淀粉样变性的认识，增加诊疗经验。
方法:分析1例AL型淀粉样变性患者的临床病例资料，进行病例报道并结合相关文献进行复习及总结 资料：82岁老年男性，2年间体重减轻约12kg，回顾病历资料发现该患者4年多次查血生化均提示球蛋白增高；其皮肤干燥，可闻及右侧颈动脉收缩期血管杂音。
行各项常规检查以及胸部正位片、腹部超声、腹部增强CT及腹部MRI，尿蛋白、血清蛋白电泳，心肌酶谱，血、尿免疫球蛋白定量，骨髓穿刺检查并送检相关血液学及遗传学检查，结合相关检查检验结果，最终行皮下脂肪活检行病理检查，诊断明确。
结果：结合该患者的临床表现、检查及检验结果，该患者最终诊断为：1.系统性轻链型（AL）淀粉样变性（λ型）；2.2型糖尿病；3.高血压病3级 极高危组；4.慢性萎缩性胃炎；5.陈旧性肺结核；6.胆囊炎并胆囊息肉；7.肝囊肿。
结论：AL淀粉样变性原先被称为原发性淀粉样变性，其罪魁祸首由单克隆免疫球蛋白轻链κ或λ形成的淀粉样蛋白原纤维以β-折叠结构组装，导致不溶性淀粉样蛋白产生并在组织沉积，最终导致器官结构破坏和功能障碍，而沉积物的器官选择多样变化是临床表现多样性的原因。对临床表现不典型的AL型淀粉样变性进行诊断时应该充分完善检查，早期的诊断对疾病的预后极为重要。同时，AL型淀粉样变性的诊断需要采用综合措施，在确定诊断后做好对累及器官的评估和预后分层也十分重要，以便确定适当的治疗时机及治疗方案。目前主要治疗方法为化疗、自体造血干细胞移植以及支持治疗。

Objects: To investigate the diagnosis and treatment of systemic immunoglobulin light-chain amyloidosis.
Methods: To analyze one case of recently diagnosed AL amyloidosis and to review relevant literature.
Data:Though the history and a complete physical examination, retrospective analysis of his clinical information, we find the plasma globulin was repeatedly elevated and his skin is dry within last 4 years, and the right carotid artery systolic bruits.
Regular examination, chest X-ray, abdominal ultrasonography, abdomen enhanced CT scan and MRI, urine protein quantitation, serum protein electorphoresis, myocardial enzyme, serum and urine immunoglobulin light chains, bone marrow puncture for hematology and genetic analysis were carried out. Clinical diagnosis was based on combination of the patient clinical history, physical examination and laboratory results. Finally, the abdomen subcutaneous fat biopsies and pathologyical study was employed to comfirm the diagnosis.
Results: Integrating the patient clinical history, physical examination, laboratory and imaging results, the final diagnosis were as following: 1. systemic immunoglobulin  light-chain (AL) amyloidosis(λ); 2. type 2 diabetes; 3. hypertension; 4. chronic atrophic gastritis; 5. old pulmonary tuberculosis; 6. cholecystitis and cholecystic polypus; 7. hepatic cysts.

Conclusion: AL amyloidosis belongs to primary amyloidosis. The culprit substance is the  immunoglobulin light chains (λ or κ) which formed amyloid fibril with β-folding. The unsolvable amyloid deposited in body tissue, leading to organ dysfunction. Because a variety of organs involved in the process, the clinical manifestations were diversified. We should do comprehensive examinations to clarify the diagnosis of AL when the manifestation were  atypical. Early diagnosis  is closely related to the prognosis of disease. Diagnosis of AL mostly rely on the biopsy, if pathological study confirm the diagnosis, assessment of organ damage and prognosis is extremely important in order to choosing the optimal treatment opportunity and program. At present the predominant treatment is chemotherapy, autologous stem cell transplantation and supportive treatment.