Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center. Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated. Results: Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was 77±62.0 months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%. Conclusion: Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.
Abstract
Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center. Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated. Results: Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was 77±62.0 months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%. Conclusion: Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.
참고문헌 (29)
- Applegarth DA, "Incidence of inborn errors of metabolism in British Columbia, 1969-1996", Pediatrics, 105, pp.e10~ (2000)
- Ozen H, "Glycogen storage diseases: new perspectives", World J Gastroenterol, 13, pp.2541~2553 (2007)
- Chen YT, "The metabolic & molecular basis of inherited diseases", pp.1521~1552 (2001), McGraw-Hill
- Froissart R, "Glucose-6-phosphatase deficiency", Orphanet J Rare Dis, 6, pp.27~ (2011)
- Wolfsdorf JI, "Glycogen storage diseases", Rev Endocr Metab Disord, 4, pp.95~102 (2003)
- Chen YT, "Cornstarch therapy in type I glycogen-storage disease", N Engl J Med, 310, pp.171~175 (1984)
- Rake JP, "Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)", Eur J Pediatr, 161(1), pp.S112~S119 (2002)
- Matern D, "Liver transplantation for glycogen storage disease types I, III, and IV", Eur J Pediatr, 158(2), pp.S43~S48 (1999)
- Iyer SG, "Long-term results of living donor liver transplantation for glycogen storage disorders in children", Liver Transpl, 13, pp.848~852 (2007)
- Willems PJ, "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients", Eur J Pediatr, 149, pp.268~271 (1990)
- Smit GP, "The long-term outcome of patients with glycogen storage diseases", J Inherit Metab Dis, 13, pp.411~418 (1990)
- Rake JP, "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)", Eur J Pediatr, 161(1), pp.S20~S34 (2002)
- Kido J, "Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes", J Hum Genet, 58, pp.285~292 (2013)
- Hershkovitz E, "Glycogen storage disease type III in Israel: presentation and long-term outcome", Pediatr Endocrinol Rev, 11, pp.318~323 (2014)
- Lee SY, "Uncooked cornstarch therapy in type I glycogen-storage disease (GSD-I)", J Korean Pediatr Soc, 38, pp.36~46 (1995)
- Kim JW, "Mutation analysis of Korean patients with glycogen storage disease type Ia", Korean J Pediatr Gastroenterol Nutr, 4, pp.213~217 (2001)
- 양혜란, "당원병 제1형의 장기 추적 관찰; 간선종 발생의 위험요인에 대한 연구", Pediatric Gastroenterology, Hepatology & Nutrition, 6(2), pp.129~139 (2003), 대한소아소화기영양학회
- 유한욱, "한국인 당원병 제 Ia형의 임상상과 생옥수수 전분가루 복용이 키성장에 미치는 영향", Annals of Pediatirc Endocrinology & Metabolism, 12(1), pp.35~40 (2007), 대한소아내분비학회
- Ko JM, "AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III", J Genet Med, 4, pp.72~79 (2007)
- Demo E, "Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?", J Hepatol, 46, pp.492~498 (2007)
- Hicks J, "Glycogen storage diseases:a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment", Ultrastruct Pathol, 35, pp.183~196 (2011)
- Coleman RA, "Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features", J Inherit Metab Dis, 15, pp.869~881 (1992)
- Talente GM, "Glycogen storage disease in adults", Ann Intern Med, 120, pp.218~226 (1994)
- L'herminé-Coulomb A, "Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family", Am J Med Genet A, 139A, pp.118~122 (2005)
- Moses SW, "The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies", Curr Mol Med, 2, pp.177~188 (2002)
- Hidaka F, "A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1", Pediatr Int, 47, pp.687~690 (2005)
- Davidson JJ, "cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis", Proc Natl Acad Sci U S A, 89, pp.2096~2100 (1992)
- Burwinkel B, "Liver glycogenosis due to phosphorylase kinase deficiency:PHKG2 gene structure and mutations associated with cirrhosis", Hum Mol Genet, 7, pp.149~154 (1998)
- Beauchamp NJ, "Glycogen storage disease type IX: High variability in clinical phenotype", Mol Genet Metab, 92, pp.88~99 (2007)