Abstract:
BACKGROUND & AIMS:Oral bile acid replacement has been shown to be an effective therapy in primary bile acid synthesis defects, but to date there have been no reports of the long-term effects of this therapy. The aim of the study was to evaluate the long-term effectiveness and safety of cholic acid (CA) therapy. METHODS:Fifteen patients with either 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase (3beta-HSD) (n = 13) or Delta(4)-3-oxosteroid 5beta-reductase (Delta(4)-3-oxo-R) (n = 2) deficiency confirmed by mass spectrometry and gene sequencing received oral CA and were followed up prospectively. RESULTS:CA therapy was started at a median age of 3.9 years (range, 0.3-13.1 years). The median follow-up with treatment was 12.4 years (range, 5.6-15 years). The mean daily dose of CA was initially 13 mg/kg and was 6 mg/kg at last evaluation. During CA therapy, physical examination findings, laboratory test results, and findings on sonography normalized. Mass spectrometry analysis of urine showed that excretion of the atypical metabolites was reduced by 500-fold and 30-fold in 3beta-HSD and Delta(4)-3-oxo-R deficiency, respectively, and total urinary bile acid excretion decreased dramatically. Liver biopsies performed in 14 patients after at least 5 years of CA therapy showed marked improvement, especially in patients with the 3beta-HSD deficiency. CA was well tolerated with all children developing normally, including 2 women having 4 normal pregnancies during treatment. CONCLUSIONS:Oral CA therapy is a safe and effective long-term treatment of the most common primary bile acid synthesis defects.
journal_name
Gastroenterologyjournal_title
Gastroenterologyauthors
Gonzales E,Gerhardt MF,Fabre M,Setchell KD,Davit-Spraul A,Vincent I,Heubi JE,Bernard O,Jacquemin Edoi
10.1053/j.gastro.2009.07.043subject
Has Abstractpub_date
2009-10-01 00:00:00pages
1310-1320.e1-3issue
4eissn
0016-5085issn
1528-0012pii
S0016-5085(09)01163-9journal_volume
137pub_type
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