Early Diagnosis and Treatment may Prevent the Development of Complications in an Adult Patient with Glycogen Storage Disease Type .IOTA.a
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- Araoka Toshikazu
- Department of Nephrology, Graduate School of Medicine, University of Tokushima Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
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- Takeoka Hiroya
- Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
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- Abe Hideharu
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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- Kishi Seiji
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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- Araki Makoto
- Department of Nephrology, Graduate School of Medicine, University of Kyoto
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- Nishioka Keisuke
- Department of Nephrology, Graduate School of Medicine, University of Kyoto
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- Ikeda Masaki
- Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
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- Mazaki Tetsuro
- Division of Orthopedics, Red Cross Kobe Hospital
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- Ikemura Shiori
- Division of Anesthesiology, Red Cross Kobe Hospital
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- Kondo Makiko
- Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
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- Hoshina Azusa
- Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
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- Nagai Kojiro
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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- Mima Akira
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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- Murakami Taichi
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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- Mimura Rokuro
- Division of Pathology, Hyogo Prefectural Amagasaki Hospital
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- Oka Kazumasa
- Department of Pathology, Osaka Kaisei Hospital
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- Saito Takao
- Division of Nephrology and Rheumatology, Department of Internal Medicine, Faculty of Medicine, Fukuoka University
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- Doi Toshio
- Department of Nephrology, Graduate School of Medicine, University of Tokushima
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説明
Type Ιa glycogen storage disease (GSD Ιa) is caused by the deficiency of glucose-6-phosphatase activity, which results in metabolic disorder and organ failure, including renal failure. GSD Ιa patients are generally diagnosed at a median age of 6 months. However, we report a 20-year-old Japanese female with newly diagnosed GSD Ιa. The renal disorder of GSD Ιa is considered to be produced by glomerular hyperfiltration, TGF-β 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 Ιa 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 Ιa 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.<br>
収録刊行物
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- Internal Medicine
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Internal Medicine 49 (16), 1787-1792, 2010
一般社団法人 日本内科学会