Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics
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Hereditary fibrinogen Aα-chain amyloidosis (Aα-chain amyloidosis) is a type of autosomal dominant systemic amyloidosis caused by mutations in fibrinogen Aα-chain gene (FGA). Patients with Aα-chain amyloidosis have been mainly reported in Western countries but have been rarely reported in Asia, with only five patients with Aα-chain amyloidosis being reported in Korea, China, and Japan. Clinically, the most prominent manifestation in Asian patients with Aα-chain amyloidosis is progressive nephropathy caused by excessive amyloid deposition in the glomeruli, which is similar to that observed in patients with Aα-chain amyloidosis in Western countries. In molecular features in Asian Aα-chain amyloidosis, the most common variant, E526V, was found in only one Chinese kindred, and other four kindred each had a different variant, which have not been identified in other countries. These variants are located in the C-terminal region (amino acid residues 517?555) of mature Aα-chain, which was similar to that observed in patients with Aα-chain amyloidosis in other countries. The precise number of Asian patients with Aα-chain amyloidosis is unclear. However, patients with Aα-chain amyloidosis do exist in Asian countries, and the majority of these patients may be diagnosed with other types of systemic amyloidosis.
Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.19:320(2018)
収録刊行物
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- INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 19 (1), 320-, 2018-01-22
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詳細情報 詳細情報について
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- CRID
- 1050848249841624704
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- NII論文ID
- 120007099523
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- NII書誌ID
- AA12038549
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- ISSN
- 14220067
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- HANDLE
- 10091/00022107
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- 本文言語コード
- en
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- 資料種別
- journal article
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- IRDB
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