Early Diagnosis and Treatment may Prevent the Development of Complications in an Adult Patient with Glycogen Storage Disease Type Ιa

Toshikazu Araoka; Hiroya Takeoka; Hideharu Abe; Seiji Kishi; Makoto Araki; Keisuke Nishioka; Masaki Ikeda; Tetsuro Mazaki; Shiori Ikemura; Makiko Kondo; Azusa Hoshina; Kojiro Nagai; Akira Mima; Taichi Murakami; Rokuro Mimura; Kazumasa Oka; Takao Saito; Toshio Doi

doi:10.2169/internalmedicine.49.3425

CASE REPORTS

Early Diagnosis and Treatment may Prevent the Development of Complications in an Adult Patient with Glycogen Storage Disease Type Ιa

Toshikazu Araoka, Hiroya Takeoka, Hideharu Abe, Seiji Kishi, Makoto Araki, Keisuke Nishioka, Masaki Ikeda, Tetsuro Mazaki, Shiori Ikemura, Makiko Kondo, Azusa Hoshina, Kojiro Nagai, Akira Mima, Taichi Murakami, Rokuro Mimura, Kazumasa Oka, Takao Saito, Toshio Doi

Author information

Toshikazu Araoka
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
Hiroya Takeoka
Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
Hideharu Abe
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Seiji Kishi
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Makoto Araki
Department of Nephrology, Graduate School of Medicine, University of Kyoto
Keisuke Nishioka
Department of Nephrology, Graduate School of Medicine, University of Kyoto
Masaki Ikeda
Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
Tetsuro Mazaki
Division of Orthopedics, Red Cross Kobe Hospital
Shiori Ikemura
Division of Anesthesiology, Red Cross Kobe Hospital
Makiko Kondo
Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
Azusa Hoshina
Division of Nephrology, Hyogo Prefectural Amagasaki Hospital
Kojiro Nagai
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Akira Mima
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Taichi Murakami
Department of Nephrology, Graduate School of Medicine, University of Tokushima
Rokuro Mimura
Division of Pathology, Hyogo Prefectural Amagasaki Hospital
Kazumasa Oka
Department of Pathology, Osaka Kaisei Hospital
Takao Saito
Division of Nephrology and Rheumatology, Department of Internal Medicine, Faculty of Medicine, Fukuoka University
Toshio Doi
Department of Nephrology, Graduate School of Medicine, University of Tokushima

Keywords: glycogen storage disease type Ιa, glomerular enlargement, hyperlipidemia, intensive therapy, renal disorder

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 16 Pages 1787-1792

DOI https://doi.org/10.2169/internalmedicine.49.3425

Details

Abstract

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.

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