Takeda K, Tanaka K, Kumamoto T, Morioka D, Endo I, Togo S, Shimada H
Department of Gastroenterological Surgery, Yokohama City University, Yokohama, Japan.
Transplant Proc. 2010 Nov;42(9):3858-61. doi: 10.1016/j.transproceed.2010.07.105.
A 27-year-old Japanese man underwent liver transplantation because of uncompensated cirrhosis due to Dorfman-Chanarin syndrome (DCS). At birth, the patient displayed ichthyosis and liver dysfunction. Moreover, mental retardation appeared and intracytoplasmic vacuoles were observed within peripheral blood neutrophils. A fatty liver was also noticed, leading to the diagnosis of DCS. When he was referred to our hospital, his American Society of Anesthesiologists score was 3. The findings of computed tomography showed liver atrophy, splenomegaly, and ascites. The Child-Pugh score was B, and the Model for End-stage Liver Disease score was 14. The pathophysiology was DCS with uncompensated liver cirrhosis. Therefore, living donor liver transplantation (LDLT) was performed from the patient's brother. The histological appearance of the resected liver revealed macrovesicular steatosis in most hepatocytes with excess fibrous tissue in the portal areas. These findings were compatible with nonalcoholic steatohepatitis. Although the patient's mental retardation and characteristic appearance have not improved, good liver function has been maintained since LDLT. An outpatient protocol liver biopsy performed at 12 months after LDLT did not show recurrence of macrovesicular steatosis.
一名27岁的日本男性因多夫曼-查纳林综合征（DCS）导致失代偿性肝硬化而接受了肝移植。患者出生时即表现出鱼鳞病和肝功能障碍。此外，还出现了智力发育迟缓，外周血中性粒细胞内可见胞质内空泡。同时还发现了脂肪肝，从而诊断为DCS。当他被转诊至我院时，其美国麻醉医师协会（ASA）评分是3分。计算机断层扫描结果显示肝脏萎缩、脾肿大和腹水。Child-Pugh评分是B级，终末期肝病模型（MELD）评分是14分。病理生理为DCS合并失代偿性肝硬化。因此，从患者的兄弟处进行了活体供肝肝移植（LDLT）。切除肝脏的组织学表现显示大多数肝细胞有大泡性脂肪变性，门管区有过多纤维组织。这些发现符合非酒精性脂肪性肝炎。尽管患者的智力发育迟缓和特征性外貌没有改善，但自LDLT术后肝功能一直维持良好。LDLT术后12个月进行的门诊常规肝活检未显示大泡性脂肪变性复发。
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