SAGAWA Takaomi
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant Professor
Article types Case report
Language English
Peer review Non peer reviewed
Title Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
Journal Formal name:Internal medicine
Abbreviation:Intern Med
ISSN code:13497235/09182918
Domestic / ForeginDomestic
Volume, Issue, Page 59(21),pp.2719-2724
Author and coauthor HORIUCHI Kentaro, KOGISO Tomomi*, SAGAWA Takaomi, ITO Ayumi, TANIAI Makiko, Miura Kenichiro, HATTORI Motoshi, MORISADA Naoya, HASHIMOTO Etsuko, TOKUSHIGE Katsutoshi
Publication date 2020/11
Summary 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