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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
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- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제20권 제4호
- 발행연도
- 2017.1
- 수록면
- 263 - 267 (5page)
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초록· 키워드
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Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hep-atomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and in-tracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient’s elevated liver en-zymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of chil-dren with hepatosplenomegaly and dyslipidemia.
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참고문헌 (12)
참고문헌 신청
Barker CC / 2001 / Crohn-like enteritis presenting as hypoglycemia in a patient with glycogen storage disease type 1b, treated with granulocyte colony-stimulating factor and
Bernstein DL / 2013 / Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease / J Hepatol 58 : 1230 ~ 1243
Burton BK / 2015 / A phase 3 trial of Sebelipase alfa in lysosomal acid lipase deficiency / N Engl J Med 373 : 1010 ~ 1020
Burton BK / 2015 / Clinical features of lysosomal acid lipase deficiency / J Pediatr Gastroenterol Nutr 61 : 619 ~ 625
Du H / 1998 / Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease / Mol Genet Metab 64 : 126 ~ 134
Bernstein DL / 2013 / Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease / J Hepatol 58 : 1230 ~ 1243
Burton BK / 2015 / A phase 3 trial of Sebelipase alfa in lysosomal acid lipase deficiency / N Engl J Med 373 : 1010 ~ 1020
Burton BK / 2015 / Clinical features of lysosomal acid lipase deficiency / J Pediatr Gastroenterol Nutr 61 : 619 ~ 625
Du H / 1998 / Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease / Mol Genet Metab 64 : 126 ~ 134
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