https://scholars.lib.ntu.edu.tw/handle/123456789/195665
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | CHEN, HUEY-LING | en |
dc.creator | 陳慧玲 | zh-tw |
dc.creator | CHEN, HUEY-LING | en |
dc.date | 2009 | en |
dc.date.accessioned | 2010-07-08T01:10:52Z | - |
dc.date.accessioned | 2018-07-11T18:03:53Z | - |
dc.date.available | 2010-07-08T01:10:52Z | - |
dc.date.available | 2018-07-11T18:03:53Z | - |
dc.date.issued | 2009 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/188532 | - |
dc.description.abstract | We encounter hyper-3-oxo-Delta(4) bile aciduria in patients with severe cholestatic liver disease or fulminant liver failure during the neonatal period. However, simply by bile acid analysis, it is difficult to distinguish hyper-3-oxo- Delta(4) bile aciduria from primary 3-oxo-Delta(4 )-steroid 5 beta-reductase deficiency. To determine whether 3-oxo-Delta (4 )-steroid 5 beta-reductase (SRD5B1) gene analysis is required for the accurate diagnosis of 3-oxo-Delta(4)- steroid 5 beta-reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper-3-oxo-Delta(4) bile aciduria. Based upon the results, four patients who had developed neonatal liver failure were diagnosed as having neonatal hemochromatosis. Two patients with chronic cholestasis were diagnosed as having primary 3-oxo-Delta(4)- steroid 5 beta- reductase deficiency by SRD5B1 gene analysis. The SRD5B1 gene in these two patients had a heterozygous mutation, G737 A (Gly 223 Glu) in one patient and C217T (Arg 50 stop) in the other. Based upon our limited data, we conclude that SDR 5B1 gene analysis is required for the accurate diagnosis of 3-oxo-Delta(4)-steroid 5 beta-reductase deficiency. Moreover , we think that it is important to elucidate whether there is a heterozygous or a compound heterozygous mutation of the SRD5B1 gene in our two patients. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY v.24 n.5 pp.776-785 | en |
dc.relation.ispartof | JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | - |
dc.subject | 3-oxo-Delta(4) bile aciduria | en |
dc.subject | inborn error of bile acid metabolism | en |
dc.subject | mutation analysis | en |
dc.subject | neonatal cholestasis | en |
dc.subject | ursodeoxycholic acid therapy | en |
dc.title | Srd5b1 Gene Analysis Needed for the Accurate Diagnosis of Primary 3-Oxo- Delta(4)-Steroid 5 Beta-Reductase Deficiency | en |
dc.type | journal article | en |
dc.relation.pages | 776-785 | - |
dc.relation.journalvolume | v.24 | - |
dc.relation.journalissue | n.5 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.languageiso639-1 | en_US | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。