Benson Merrill D
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 635 Barnhill Drive, MS-128, Indianapolis, IN 46202-5126, USA.
Best Pract Res Clin Rheumatol. 2003 Dec;17(6):909-27. doi: 10.1016/j.berh.2003.09.001.
Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by beta-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary). The challenge diagnostically is to recognize hereditary amyloidosis as a distinct entity and then to determine the specific type of genetic disease. There are several types of hereditary amyloidosis and precise diagnosis is essential for proper therapy and genetic counselling. This chapter strives to present the subject of hereditary amyloidosis in a way which facilitates understanding of the disease, of the means for diagnosis, of the present and possible future therapies, and of the importance of combined basic and medical research.
一般来说,遗传性淀粉样变性是一种全身性疾病,与β结构蛋白沉积累及多个器官系统有关。因此,它常常类似于更常见的全身性淀粉样变性形式:免疫球蛋白轻链(AL,原发性)和反应性(AA,继发性)。诊断方面的挑战在于将遗传性淀粉样变性识别为一种独特的疾病实体,然后确定具体的遗传疾病类型。遗传性淀粉样变性有多种类型,准确诊断对于恰当的治疗和遗传咨询至关重要。本章力求以一种有助于理解该疾病、诊断方法、当前及未来可能的治疗方法以及基础研究与医学研究相结合的重要性的方式来阐述遗传性淀粉样变性这一主题。