日本語AIでPubMedを検索
ウィルソン病による遅発性急性肝不全をプラスマフェレーシスと血液濾過で管理し、死亡ドナー肝移植の橋渡しに成功した症例報告と文献レビュー
Late-onset acute liver failure due to Wilson's disease managed by plasmapheresis and hemodiafiltration successfully serving as a bridge for deceased donor liver transplantation: a case report and literature review.
PMID: 32643122 DOI: 10.1007/s12328-020-01175-8.
抄録
ウィルソン病（WD-ALF）による遅発性急性肝不全はまれである。極度の凝固障害を伴う急性肝不全を呈する44歳女性患者が，当院に肝移植（LT）の評価のために転院した．剖検時に肺胞出血とCoombs陰性の急性溶血を認めた．LeipzigスコアとAcute Liver Failure Study Group Registryで提案された迅速診断基準を用いてWD-ALFの仮診断を行い，死亡ドナーLT（DDLT）の待機リストに載せる直前に機械換気，プラスマフェレーシス，亜鉛とキレートによる血液濾過を開始した．ピークMELDスコアは40、WDの改訂版King'sスコアは13であった。血清遊離銅値と患者の全身状態は人工的なサポートシステムで安定していたが、脳波上の三相波と肝萎縮が指摘された。急性溶血を発症してから約2週間後に緊急DDLTを受け、無事生存した。遺伝子検査の結果、ATP7B遺伝子の2つの遺伝子座の変異が確認され、WDと診断された。本症例は、国内で報告されている晩発型のWD-ALFを呈し、緊急性DDLTによる治療に成功した最初で最古の患者である。
Late-onset acute liver failure due to Wilson's disease (WD-ALF) is rare. A 44-year-old female patient presenting acute hepatic decompensation with extreme coagulopathy was transferred to our hospital for evaluation for liver transplantation (LT). Alveolar hemorrhage and Coombs-negative acute hemolysis occurred during workup. Mechanical ventilation, plasmapheresis, and hemodiafiltration with zinc and chelation were started immediately before placing the patient on the waitlist for deceased donor LT (DDLT), with a tentative diagnosis of WD-ALF using the Leipzig score and quick diagnostic criteria suggested by the Acute Liver Failure Study Group Registry. The peak MELD score was 40, and the revised version of King's score for WD was 13. Serum free copper levels and the patient's overall general condition were stabilized with artificial support systems, although triphasic wave on electroencephalogram and liver atrophy were noted. She successfully underwent emergent DDLT approximately 2 weeks after suffering from acute hemolysis and survived. The genetic tests confirmed mutations at 2 loci in the ATP7B gene and, therefore, the diagnosis of WD. This is the first and oldest patient reported in Japan to present late-onset WD-ALF that was successfully treated with emergent DDLT.