Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, Matsuo N
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Am J Med Genet. 1997 Mar 3;69(1):13-6.
Alström syndrome is an autosomal recessive disorder (MIM No. *203800) characterized by retinal degeneration, obesity, deafness, noninsulin-dependent diabetes mellitus, and nephropathy. We report two sibs with Alström syndrome and hepatic dysfunction. The first sib developed elevations in liver enzymes at 29 years of age. Liver biopsy showed fatty liver, lymphocytic infiltration, and piecemeal necrosis. The second sib had had elevated gamma-glutamyltransferase levels since she was 10 years old. She developed ascites, esophageal varices, and splenomegaly in her twenties. Cirrhosis was confirmed by autopsy; the patient was 26 years of age at death. Three Alström syndrome patients with hepatic dysfunction have been documented previously. No specific cause was identified for liver disease in any of the patients, including ours. Hepatic dysfunction appears to be a manifestation of Alström syndrome.
阿尔斯特伦综合征是一种常染色体隐性疾病（MIM编号*203800），其特征为视网膜变性、肥胖、耳聋、非胰岛素依赖型糖尿病和肾病。我们报告了两名患有阿尔斯特伦综合征且伴有肝功能障碍的同胞。第一名同胞在29岁时出现肝酶升高。肝脏活检显示为脂肪肝、淋巴细胞浸润和碎片状坏死。第二名同胞自10岁起γ-谷氨酰转移酶水平就一直升高。她在二十多岁时出现腹水、食管静脉曲张和脾肿大。尸检证实为肝硬化；患者死亡时26岁。此前已有3例记录在案的患有肝功能障碍的阿尔斯特伦综合征患者。包括我们的患者在内，所有患者均未发现肝病的具体病因。肝功能障碍似乎是阿尔斯特伦综合征的一种表现。
