Document Detail

Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency.
MedLine Citation:
PMID:  20400917     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: 3beta-Hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency is a bile acid synthesis defect responsive to primary bile acids. We reviewed its clinical features and response to treatment with a mixture of ursodeoxycholic (UDCA) and chenodeoxycholic acid (CDCA) to titrate the dose of supplements required for disease control.
PATIENTS AND METHODS: We studied our patients by liquid chromatography-tandem mass spectrometry, liver function tests, and histology. After diagnosis all of the patients received a balanced mixture of UDCA/CDCA and the dose was titrated according to urinary levels of 3beta,7 alpha-dihydroxy-5-cholenoic acid (u-3beta-D-OH-5C).
RESULTS: Five patients presenting with giant cell hepatitis, biliary cirrhosis, and cryptogenic cirrhosis (1 each), and picked up by neonatal screening (2 patients) were diagnosed at a median age of 2.5 years (range 0.1-5.5). Normal levels of u-3beta-D-OH-5C were achieved after 4 months (range 3-28 months) from the start of the treatment. The minimum dose of UDCA/CDCA required to maintain normal u-3beta-D-OH-5C levels was 5/5 mg x kg(-1) x day(-1). A follow-up biopsy in 2 patients showed no progression of liver disease.
CONCLUSIONS: A mixture of UDCA/CDCA can effectively control 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency. Dose titration by liquid chromatography-tandem mass spectrometry warrants the maintenance of negative feedback on the abnormal synthetic pathway and avoids disease progression.
L Riello; L D'Antiga; M Guido; R Alaggio; G Giordano; L Zancan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric gastroenterology and nutrition     Volume:  50     ISSN:  1536-4801     ISO Abbreviation:  J. Pediatr. Gastroenterol. Nutr.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-26     Completed Date:  2010-11-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8211545     Medline TA:  J Pediatr Gastroenterol Nutr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  655-60     Citation Subset:  IM    
Department of Paediatrics, Paediatric Liver, University of Padova, Italy.
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MeSH Terms
3-Hydroxysteroid Dehydrogenases / deficiency*
Chenodeoxycholic Acid / administration & dosage,  therapeutic use*
Child, Preschool
Cholagogues and Choleretics / therapeutic use*
Cholic Acids / urine*
Chromatography, Liquid
Dietary Supplements
Disease Progression
Infant, Newborn
Isomerases / deficiency
Liver Diseases / diagnosis,  drug therapy*
Steroid Metabolism, Inborn Errors / diagnosis,  drug therapy*
Tandem Mass Spectrometry
Treatment Outcome
Ursodeoxycholic Acid / administration & dosage,  therapeutic use*
Reg. No./Substance:
0/Cholagogues and Choleretics; 0/Cholic Acids; 128-13-2/Ursodeoxycholic Acid; 474-25-9/Chenodeoxycholic Acid; 5255-17-4/3 beta-hydroxy-delta 5-cholenic acid; EC 1.1.-/3-Hydroxysteroid Dehydrogenases; EC 5.-/Isomerases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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