A case of A20 haploinsufficiency complicated by autoimmune hepatitis

IF 3.9 3区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY

Hepatology Research Pub Date : 2023-12-21 DOI:10.1111/hepr.14003

Taisei Iwasa, Takao Miwa, Shinji Unome, Tatsunori Hanai, Kenji Imai, Koji Takai, Yuki Miwa, Tomohiro Hori, Hidenori Ohnishi, Munekazu Matsumoto, Ayumi Niwa, Tatsuhiko Miyazaki, Masahito Shimizu

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Abstract

Aim

A20 haploinsufficiency (HA20) is a recently described autoinflammatory disease that manifests symptoms similar to those of Behçet's disease. However, little is known about the involvement of the liver in HA20. Here, we report a case of HA20 complicated by autoimmune hepatitis (AIH).

Case presentation

A 33-year-old woman was previously diagnosed with HA20 and chronic thyroiditis, and was treated with prednisolone (PSL; 7.5 mg/day) and levothyroxine sodium hydrate (125 μg/day). She experienced general malaise and jaundice, and biochemical evaluation revealed elevated liver function with an aspartate aminotransferase level of 817 U/L, an alanine aminotransferase level of 833 U/L, and a total bilirubin of 8.3 mg/dL. Pathological evaluation of the liver biopsy revealed interface hepatitis and the patient was diagnosed with acute exacerbation of AIH. Upon increasing the PSL dose to 60 mg/day, the liver enzyme levels rapidly decreased. During tapering of PSL, azathioprine 50 mg/day was added, and there was no relapse of AIH with combination therapy of PSL 7 mg/day and azathioprine 50 mg/day.

Conclusion

This is the first report of biopsy-proven AIH in an Asian patient with HA20. This case has significant implications for the pathogenesis and treatment of AIH in patients with HA20.

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一例 A20 单倍体缺陷并发自身免疫性肝炎的病例

A20单倍体缺乏症（HA20）是最近描述的一种自身炎症性疾病，其症状与贝切特氏病相似。然而，人们对HA20的肝脏受累情况知之甚少。在此，我们报告了一例并发自身免疫性肝炎（AIH）的HA20病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hepatology Research 医学-胃肠肝病学

CiteScore

8.30

自引率

14.30%

发文量

124

审稿时长

1 months

期刊介绍： Hepatology Research (formerly International Hepatology Communications) is the official journal of the Japan Society of Hepatology, and publishes original articles, reviews and short comunications dealing with hepatology. Reviews or mini-reviews are especially welcomed from those areas within hepatology undergoing rapid changes. Short communications should contain concise definitive information.

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