Morgan John, Sadler Michael A, Siegel Stacey
Department of Radiology, St. Vincent's Hospital and Medical Center, New York, NY 10011, USA.
Clin Imaging. 2008 Sep-Oct;32(5):393-5. doi: 10.1016/j.clinimag.2008.02.031.
Alström syndrome is among the rarest genetic disorders described in the medical literature. It is characterized by retinal pigment degeneration, obesity, sensorineural deafness, non-insulin-dependent diabetes mellitus, progressive chronic nephropathy, cardiomyopathy, and hepatic dysfunction. Hepatic inflammation and fibrosis, which leads to cirrhosis, portal hypertension, and liver failure, is the final pathway of the hepatopathy in Alström syndrome. We report a case of Alström syndrome with particular emphasis on hepatic findings.
阿尔斯特伦综合征是医学文献中描述的最罕见的遗传性疾病之一。其特征为视网膜色素变性、肥胖、感音神经性耳聋、非胰岛素依赖型糖尿病、进行性慢性肾病、心肌病和肝功能障碍。肝脏炎症和纤维化会导致肝硬化、门静脉高压和肝衰竭,这是阿尔斯特伦综合征肝病的最终发展路径。我们报告一例阿尔斯特伦综合征病例,并特别强调肝脏检查结果。