良性再発肝内胆汁症のコレスタシス 2

Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2.

• Eric Arthur Lorio
• David Valadez
• Naim Alkhouri
• Nicole Loo

抄録

良性再発性肝内胆汁症は、常染色体劣性慢性胆汁性疾患の中ではまれなクラスの疾患であり、通常、激しいそう痒症と黄疸を繰り返すエピソードを呈する。興味深いことに、彼女は嚢胞性線維症の膜貫通コンダクタンス調節因子、および（）のヘテロ接合体であることが判明した。最後に、彼女はステロイドに対する反応を示したが、これは今後の胆汁塩輸出ポンプ関連疾患の治療に意味があるかもしれない。

Benign recurrent intrahepatic cholestasis represents a rare class of autosomal recessive chronic cholestasis disorders, usually presenting with recurrent episodes of intense pruritus and jaundice. We report a 27-year-old woman presenting with benign recurrent intrahepatic cholestasis type 2 due to heterozygosity in Interestingly, she was also found to be heterozygous in cystic fibrosis transmembrane conductance regulator, , and (), which may explain the severe nature of her disease expression because heterozygosity in each of these genes has been associated with cholestasis. Finally, she exhibited a response to steroids that may have implications for future treatment of bile salt export pump-related diseases.

© 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.