Chanarin‐Dorfman Syndrome: A comprehensive review

Autor:	Gokhan Bagci, Erol Çakmak
Rok vydání:	2021
Předmět:	Pathology medicine.medical_specialty Hepatology Ichthyosis business.industry Disease 1-Acylglycerol-3-Phosphate O-Acyltransferase Ichthyosiform Erythroderma Congenital CHANARIN-DORFMAN SYNDROME medicine.disease Lipid Metabolism Inborn Errors 03 medical and health sciences 0302 clinical medicine Muscular Diseases 030220 oncology & carcinogenesis Lipid droplet medicine Humans Lipolysis 030211 gastroenterology & hepatology In patient business Gene
Zdroj:	Liver International. 41:905-914
ISSN:	1478-3231 1478-3223
Popis:	The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289a2ab5820f1afd6224f1c992c61374 https://doi.org/10.1111/liv.14794 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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