Araoka Toshikazu, Takeoka Hiroya, Abe Hideharu, Kishi Seiji, Araki Makoto, Nishioka Keisuke, Ikeda Masaki, Mazaki Tetsuro, Ikemura Shiori, Kondo Makiko, Hoshina Azusa, Nagai Kojiro, Mima Akira, Murakami Taichi, Mimura Rokuro, Oka Kazumasa, Saito Takao, Doi Toshio
Department of Nephrology, Graduate School of Medicine, University of Tokushima, Tokushima, Japan.
Intern Med. 2010;49(16):1787-92. doi: 10.2169/internalmedicine.49.3425. Epub 2010 Aug 13.
Type Iota(a) glycogen storage disease (GSD Iota(a)) is caused by the deficiency of glucose-6-phosphatase activity, which results in metabolic disorder and organ failure, including renal failure. GSD Iota(a) patients are generally diagnosed at a median age of 6 months. However, we report a 20-year-old Japanese female with newly diagnosed GSD Iota(a) . The renal disorder of GSD Iota(a) is considered to be produced by glomerular hyperfiltration, TGF-beta expression which is induced by renin-angiotensin-aldosterone system (RAS) and uric acid, and the increase in both small dense LDL and modified LDL which is characteristic of GSD Iota(a) as well as hypertriglyceridemia. With the administration of intensive therapies, including angiotensin type 1-receptor blocker and some lipid lowering drugs, along with traditional dietary therapy, daily proteinuria of the patient improved from 2.1 g to 0.78 g. Although the patients of GSD Iota(a) should receive an early and accurate diagnosis and effective therapies before the age of 1 year, the combination of traditional dietary therapies and intensive therapies may have therapeutic potential for the complications of adult patients. In this report, we describe the management of renal disease and the characteristic features of this metabolic disorder.
Ⅰ型糖原贮积病（GSD Ⅰ型）是由葡萄糖-6-磷酸酶活性缺乏引起的，这会导致代谢紊乱和器官衰竭，包括肾衰竭。GSD Ⅰ型患者通常在6个月大时被诊断出来。然而，我们报告了一名20岁新诊断为GSD Ⅰ型的日本女性。GSD Ⅰ型的肾脏疾病被认为是由肾小球高滤过、肾素-血管紧张素-醛固酮系统（RAS）和尿酸诱导的转化生长因子-β表达以及GSD Ⅰ型特有的小而密低密度脂蛋白和氧化低密度脂蛋白增加以及高甘油三酯血症引起的。通过给予强化治疗，包括血管紧张素1受体阻滞剂和一些降脂药物，以及传统饮食疗法，患者的每日蛋白尿从2.1克降至0.78克。尽管GSD Ⅰ型患者应在1岁前接受早期准确诊断和有效治疗，但传统饮食疗法和强化治疗的联合应用可能对成年患者的并发症具有治疗潜力。在本报告中，我们描述了肾脏疾病的管理以及这种代谢紊乱的特征。
