先天性糖基化障碍Ⅰb型1例
Chinese Journal of Difficult and Complicated Cases（2019）
Abstract
患者,男,34岁,主因"间断腹泻伴肝功能异常32年,间断腹痛3年"入院. 患者2岁时无明显诱因出现腹泻,于当地查便常规未见异常,血转氨酶升高、白蛋白减低,给予止泻、保肝、输白蛋白等治疗,病情相对平稳. 3年前再次出现腹泻,并持续性剧烈腹痛,腹部CT示肝脾大、门静脉左支及肠系膜上静脉栓子形成、肠壁轻度水肿,抗凝及对症治疗好转. 1年前行肝穿刺活检,考虑先天性肝纤维化.
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