期刊
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
卷 12, 期 2, 页码 75-87出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/13506120500106925
关键词
hereditary; familial; amyloidosis; amyloid
资金
- NCRR NIH HHS [RR-00750] Funding Source: Medline
- NIA NIH HHS [AG 10133] Funding Source: Medline
- NIDDK NIH HHS [DK42111] Funding Source: Medline
Mutations in a number of plasma proteins, including transthyretin, apolipoprotein AI, fibrinogen A alpha-chain, lysozyme, and apolipoprotein All, are associated with hereditary systemic amyloiclosis. Transthyretin amyloiclosis is the most common and is usually associated with peripheral neuropathy. Mutations in the other proteins usually have no neuropathic consequences and, instead, cause principally renal and cardiac amyloidosis. Only the apolipoprotein AI glycine 26 arginine mutation may cause peripheral neuropathy and then in only some of the kindreds with this disease. This review is concerned with the nonneuropathic hereditary systemic amyloidoses. It strives to present a synopsis of the present day knowledge of these diseases including each feature of each precursor protein and its mutations; the clinical phenotype of the disease; and suggestions for treatment when feasible. The main objective is to increase awareness of these autosomal dominant diseases, enhance the chances of early diagnosis, enhance the physician's and subsequently the patient's knowledge of each disease, and finally emphasize the need for more research to find ways to treat or prevent these diseases.
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