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ReviewOpen Access

A review of Alström syndrome: a rare monogenic ciliopathy

Author Affiliations
The University of Western Australia, Jagiellonian University, Dhaka Medical College and Hospital, Texila American University
Published InIntractable & Rare Diseases Research
Year2021
Citations44

Abstract

) gene. Alström syndrome has an autosomal recessive nature of inheritance. Approximately 1,200 cases of Alström syndrome have been identified worldwide. Complications of the disease are likely caused by dysfunctional cilia with complications arising early in life. The known complications of Alström syndrome have been reported to impact multiple major organ systems, including the endocrine system, cardiac system, renal system, sensory system, and hepatic system. The symptoms of Alström syndrome have great variability in presentation and intensity but often lead to organ damage. This has resulted in a shortened lifespan for individuals affected by Alström syndrome. Individuals with the disease rare exceed the age of 50. Currently, there are no specific treatments for Alström syndrome that can cure the disease,…
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