タニアイ　マキコ   Taniai Makiko   谷合　麻紀子    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読なし
表題	Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
掲載誌名	正式名：Internal medicine 略　 称：Intern Med ISSNコード：13497235/09182918
掲載区分	国内
巻・号・頁	59(21),pp.2719-2724
著者・共著者	HORIUCHI Kentaro, KOGISO Tomomi*, SAGAWA Takaomi, ITO Ayumi, TANIAI Makiko, Miura Kenichiro, HATTORI Motoshi, MORISADA Naoya, HASHIMOTO Etsuko, TOKUSHIGE Katsutoshi
発行年月	2020/11
概要	We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bardet-Biedl syndrome (BBS). Skipping of exons 14 and 17 in the sodium channel and clathrin linker 1 (SCLT1) gene was observed. At 22 years of age, the liver enzyme levels were further elevated and a diagnosis of microvesicular steatohepatitis was made. Insulin resistance, a reduction of muscle mass, an impairment of the fatty acid metabolism, and hyperleptinemia in this syndrome may cause steatohepatitis.
DOI	10.2169/internalmedicine.5045-20
PMID	33132306