Abstract：
OBJECTIVE: 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).
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
目的：A20单倍体功能不全（HA20）是一种最近描述的自身炎症性疾病，表现出与Bechet病相似的症状。然而,对HA20的肝脏受累知之甚少。在这里，我们报告一例HA20并发自身免疫性肝炎（AIH）。
方法：一名33岁女性先前被诊断患有HA20和慢性甲状腺炎，并接受泼尼松龙（PSL）（7.5mg/天）和左甲状腺素钠水合物（125µg/天）治疗。她经历了全身不适和黄疸，生化评估显示肝功能升高，天冬氨酸转氨酶水平为817U/L，丙氨酸转氨酶水平为833U/L，总胆红素为8.3mg/dL。肝活检的病理评估显示界面性肝炎，患者被诊断为AIH急性加重。当PSL剂量增加到60mg/天时，肝酶水平迅速下降。在PSL逐渐缩小的过程中，硫唑嘌呤50毫克/天，PSL7mg/天和硫唑嘌呤50mg/天联合治疗AIH无复发。
结论：这是首次在患有HA20的亚洲患者中进行活检证实的AIH报告。该病例对HA20患者AIH的发病机制和治疗具有重要意义。本文受版权保护。保留所有权利。
方法：一名33岁女性先前被诊断患有HA20和慢性甲状腺炎，并接受泼尼松龙（PSL）（7.5mg/天）和左甲状腺素钠水合物（125µg/天）治疗。她经历了全身不适和黄疸，生化评估显示肝功能升高，天冬氨酸转氨酶水平为817U/L，丙氨酸转氨酶水平为833U/L，总胆红素为8.3mg/dL。肝活检的病理评估显示界面性肝炎，患者被诊断为AIH急性加重。当PSL剂量增加到60mg/天时，肝酶水平迅速下降。在PSL逐渐缩小的过程中，硫唑嘌呤50毫克/天，PSL7mg/天和硫唑嘌呤50mg/天联合治疗AIH无复发。
结论：这是首次在患有HA20的亚洲患者中进行活检证实的AIH报告。该病例对HA20患者AIH的发病机制和治疗具有重要意义。本文受版权保护。保留所有权利。
