지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제20권 제1호
- 발행연도
- 2017.1
- 수록면
- 61 - 64 (4page)
이용수
초록· 키워드
오류제보하기
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or heredi-tary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomit-ing, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G＞A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.
목차
등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Kahler SG / 1994 / Pancreatitis in patients with organic acidemias / J Pediatr 124 : 239 ~ 243
Kandula L / 2008 / Etiology and outcome of acute pancreatitis in infants and toddlers / J Pediatr 152 : 106 ~ 110
Manes G / 2006 / Timing of antibiotic prophylaxis in acute pancreatitis:a controlled randomized study with meropenem / Am J Gastroenterol 101 : 1348 ~ 1353
Mantadakis E / 2013 / Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia / Case Rep Pediatr 2013 : 721871 ~
Masamune A / 2004 / Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving the SPINK1 gene mutation N34S / Pancreas 28 : 305 ~ 31
Kandula L / 2008 / Etiology and outcome of acute pancreatitis in infants and toddlers / J Pediatr 152 : 106 ~ 110
Manes G / 2006 / Timing of antibiotic prophylaxis in acute pancreatitis:a controlled randomized study with meropenem / Am J Gastroenterol 101 : 1348 ~ 1353
Mantadakis E / 2013 / Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia / Case Rep Pediatr 2013 : 721871 ~
Masamune A / 2004 / Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving the SPINK1 gene mutation N34S / Pancreas 28 : 305 ~ 31
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