阿尔斯特罗姆综合征：综述：纤毛症的多种临床表现及其病因。

IF 0.9 4区医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL

Yonago acta medica Pub Date : 2024-05-21 eCollection Date: 2024-05-01 DOI:10.33160/yam.2024.05.010

Keiichi Hanaki, Tomoe Kinoshita, Masanobu Fujimoto, Yuki Sonoyama-Kawashima, Susumu Kanzaki, Noriyuki Namba

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引用次数: 0

摘要

阿尔斯特罗姆综合征是一种由单基因异常引起的遗传性肥胖症，为常染色体隐性遗传。除肥胖外，该病还具有多种临床表现，包括进行性视力和听力损伤、2 型糖尿病、扩张型心肌病、肝肾功能障碍等。最近的研究强调，疾病相关基因（ALMS1）在纤毛的形成和功能中起着关键作用，因此该病的临床表现被归类为纤毛病。本综述描述了定义该综合征的各种临床指标，并阐明了其病理基础。

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Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.

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来源期刊

Yonago acta medica MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

1.60

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Yonago Acta Medica (YAM) is an electronic journal specializing in medical sciences, published by Tottori University Medical Press, 86 Nishi-cho, Yonago 683-8503, Japan. The subject areas cover the following: molecular/cell biology; biochemistry; basic medicine; clinical medicine; veterinary medicine; clinical nutrition and food sciences; medical engineering; nursing sciences; laboratory medicine; clinical psychology; medical education. Basically, contributors are limited to members of Tottori University and Tottori University Hospital. Researchers outside the above-mentioned university community may also submit papers on the recommendation of a professor, an associate professor, or a junior associate professor at this university community. Articles are classified into four categories: review articles, original articles, patient reports, and short communications.