Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.
Renal Unit , Guy's and St Thomas's NHS Foundation Trust , London , UK.
Clin Kidney J. 2012 Dec;5(6):559-61. doi: 10.1093/ckj/sfs143. Epub 2012 Nov 4.
Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his chronic kidney disease and found to have AA amyloid deposition on renal biopsy. Amyloid is a described complication of GSD1b. As the treatment of GSD has improved, patients are surviving longer and are now presenting more frequently to adult services. It is important that clinicians are aware of the possible renal complications of GSD1b.
1 型糖原贮积病（GSD）是一种遗传性代谢疾病，由葡萄糖-6-磷酸转运体活性缺陷引起。我们报告了一例 40 岁男性 1b 型糖原贮积病（GSD1b）患者，因慢性肾脏病就诊于我们的肾病科，肾活检发现有 AA 淀粉样物质沉积。淀粉样物质是 GSD1b 的一种已知并发症。随着 GSD 的治疗得到改善，患者的生存期延长，现在更频繁地出现在成人服务中。临床医生了解 GSD1b 的可能肾脏并发症非常重要。
