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学科主题: 临床医学
题名:
Hereditary Transthyretin Amyloidosis in Eight Chinese Families
作者: Meng, Ling-Chao; Lyu, He; Zhang, Wei; Liu, Jing; Wang, Zhao-Xia; Yuan, Yun
关键词: Amyloidosis ; Autonomic Nervous Dysfunction ; Cardiomyopathy ; Sensory-motor Neuropathy ; Transthyretin
刊名: CHINESE MEDICAL JOURNAL
发表日期: 2015-11-05
DOI: 10.4103/0366-6999.168048
卷: 128, 期:21, 页:2902-2905
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Medicine, General & Internal
研究领域[WOS]: General & Internal Medicine
关键词[WOS]: POLYNEUROPATHY ; MUTATION ; NEUROPATHIES ; PHENOTYPE ; GLY83ARG ; VARIANT ; GENE
英文摘要:

Background: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.

Methods: Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed.

Results: The onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2.

Conclusions: Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.

语种: 英语
WOS记录号: WOS:000363959400011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58860
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: Peking Univ First Hosp, Dept Neurol, Beijing 100034, Peoples R China

Recommended Citation:
Meng, Ling-Chao,Lyu, He,Zhang, Wei,et al. Hereditary Transthyretin Amyloidosis in Eight Chinese Families[J]. CHINESE MEDICAL JOURNAL,2015,128(21):2902-2905.
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