Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis
Kentaro HoriuchiTomomi KogisoTakaomi SagawaTaito ItoMakiko TaniaiKenichiro MiuraMotoshi HattoriNaoya MorisadaEtsuko HashimotoKatsutoshi Tokushige
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JOURNAL OPEN ACCESS

2020 Volume 59 Issue 21 Pages 2719-2724

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Abstract

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.

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© 2020 by The Japanese Society of Internal Medicine
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