지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 369 - 372 (4page)
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초록· 키워드
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Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert’s syndrome (GS) have been reported,and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important,reflecting the therapeutic implication of splenectomy and cholecystectomy.
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참고문헌 (19)
참고문헌 신청
Adachi Y / 1982 / Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease / Gastroenterol Jpn 17 : 235 ~ 240
Aono S / 1993 / Identification of defect in the genes for bilirubin UDP-glucuronosyl transferase in a patient with Crigler-Najjar syndrome type II / Biochem Biophys Res Comm
Bolton-Maggs PH / 2004 / Guidelines for the diagnosis and management of hereditary spherocytosis / Br J Haematol 126 : 455 ~ 474
Bosma PJ / 1995 / The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome / N Engl J Med 333 : 1171 ~ 1175
Costa E / 2006 / Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes / Blood Cells Mol
Aono S / 1993 / Identification of defect in the genes for bilirubin UDP-glucuronosyl transferase in a patient with Crigler-Najjar syndrome type II / Biochem Biophys Res Comm
Bolton-Maggs PH / 2004 / Guidelines for the diagnosis and management of hereditary spherocytosis / Br J Haematol 126 : 455 ~ 474
Bosma PJ / 1995 / The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome / N Engl J Med 333 : 1171 ~ 1175
Costa E / 2006 / Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes / Blood Cells Mol
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