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Journal of the Korean Society of Pediatric Nephrology 1998;2(1): 77-81.
제Ia형 당원병 1례 (Glycogen Storage Disease , Type Ia)
문상애, 노광식, 김병길, 정현주, 박영년, 김명준,
1연세대학교 의과대학 소아과학교실
2연세대학교 의과대학 소아과학교실
3연세대학교 의과대학 소아과학교실
4연세대학교 의과대학 병리학교실
5연세대학교 의과대학 병리학교실
6연세대학교 의과대학 진단방사선과학교실
7
A Case of Glycogen Storage Disease Type Ia Confirmed by Biopsy and Enzyme Assay
Sang-Ae Meen, Kwang-Sik Rho, Pyung-Kil Kim, Hyeon-Joo Jeong, Young-Nyeon Park, Myung-Joon Kim, Ji-Hong Kim
1Departments of Pediatrics, Yonsei University, College of Medicine
2Departments of Pediatrics, Yonsei University, College of Medicine
3Departments of Pediatrics, Yonsei University, College of Medicine
4Departments of Pathology, Yonsei University, College of Medicine
5Departments of Pathology, Yonsei University, College of Medicine
6Department of Padiology, Yonsei University, College of Medicine
7Department of Pediatrics, Yonsei University, College of Medicine
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ABSTRACT
The author exprienced a case of glycogen storage disease type Ia(GSD-I) in an 18-year-old male patient who was admitted to our hospital due to proteinuria and hypertension. he was suspected to have GSD when 12 years old because of his family history of short stature and hepatomegaly. On admission, physical examination revealed short stature, heparomegaly, and The diagnosis of GSD-I was confirmed by compatible liver biopsy finding and enzyme assay which erealeddeficiency of glcose-6-phosphatase if hepatocyte. Sympromatic treatment was done using antihypertensive drugs and allopurinol with diet control. The authors report a case of glycogen storage disease type Ia completely confirmed by typical clinical manifestation, pathologic findings of the liver and the kidney, and the result of enzyme assay which revealed deficiency of glucose-6-phosphatase in hepatocytes with brief review fo related literatures.
Key words: Glycogen storage disease type Ia | Liver and kidney biopsy | Enzyme assay
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