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HATTORI Motoshi
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| 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 / Foregin | Domestic |
| 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 |