|Title:||Srd5b1 Gene Analysis Needed for the Accurate Diagnosis of Primary 3-Oxo- Delta(4)-Steroid 5 Beta-Reductase Deficiency||Authors:||CHEN, HUEY-LING||Keywords:||3-oxo-Delta(4) bile aciduria;inborn error of bile acid metabolism;mutation analysis;neonatal cholestasis;ursodeoxycholic acid therapy||Issue Date:||2009||Journal Volume:||v.24||Journal Issue:||n.5||Start page/Pages:||776-785||Source:||JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY||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.
|Appears in Collections:||醫學系|
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