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- Title
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
- Authors
Keiichi Hanaki; Tomoe Kinoshita; Masanobu Fujimoto; Yuki Sonoyama-Kawashima; Susumu Kanzaki; Noriyuki Namba
- Abstract
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.
- Subjects
ALSTROM syndrome; OBESITY; TYPE 2 diabetes; DILATED cardiomyopathy; CILIA &; ciliary motion
- Publication
Yonago Acta Medica, 2024, Vol 67, Issue 2, p93
- ISSN
0513-5710
- Publication type
Article
- DOI
10.33160/yam.2024.05.010