In:
Journal of Gastroenterology and Hepatology, Wiley, Vol. 24, No. 5 ( 2009-05), p. 776-785
Abstract:
Background and Aim: We encounter hyper‐3‐oxo‐Δ 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‐Δ 4 bile aciduria from primary 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency. Methods: To determine whether 3‐oxo‐Δ 4 ‐steroid 5β‐reductase ( SRD5B1 ) gene analysis is required for the accurate diagnosis of 3‐oxo‐Δ 4 ‐steroid 5β‐reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper‐3‐oxo‐Δ 4 bile aciduria. Results: 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‐Δ 4 ‐steroid 5β‐reductase deficiency by SRD5B1 gene analysis. The SRD5B1 gene in these two patients had a heterozygous mutation, G737A (Gly 223 Glu) in one patient and C217T (Arg 50 stop) in the other. Conclusions: Based upon our limited data, we conclude that SDR5B1 gene analysis is required for the accurate diagnosis of 3‐oxo‐Δ 4 ‐steroid 5β‐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.
Type of Medium:
Online Resource
ISSN:
0815-9319
,
1440-1746
DOI:
10.1111/jgh.2009.24.issue-5
DOI:
10.1111/j.1440-1746.2008.05669.x
Language:
English
Publisher:
Wiley
Publication Date:
2009
detail.hit.zdb_id:
2006782-3
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