Caroli's disease in two siblings
نویسندگان
چکیده
症例は23歳男性,32歳女性の姉弟.弟は汎血球減少と脾腫を指摘されたことを契機に,その後の精査で肝内胆管の囊状拡張,多発腎囊胞,食道静脈瘤を認め,Caroli病と診断した.姉は食道静脈瘤破裂を契機とした精査で弟同様に肝内胆管拡張と多発腎囊胞を認め,Caroli病の診断に至った.2例とも診断時の肝腎機能は良好であったが,弟はその後の経過で胆管炎や食道静脈瘤破裂などの合併症を繰り返し,利尿剤や分岐鎖アミノ酸製剤,高アンモニア血症治療薬の投与を要する非代償性肝硬変に進展した.また,常染色体劣性多発性囊胞腎による慢性腎不全が徐々に増悪し,最終的に血液透析導入に至った.一方,姉は食道静脈瘤に対する加療後は目立った合併症なく経過しており,現在経過観察中である.Caroli病の合併症は重篤な転帰を辿る可能性があるため,診断時には本人以外に家族内の検索を十分に行い,早期発見に努めることが重要である.
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ژورنال
عنوان ژورنال: Kanzo
سال: 2023
ISSN: ['0451-4203', '1881-3593']
DOI: https://doi.org/10.2957/kanzo.64.66