| Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency. | |
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MedLine Citation:
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PMID: 20400917 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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L Riello; L D'Antiga; M Guido; R Alaggio; G Giordano; L Zancan |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric gastroenterology and nutrition Volume: 50 ISSN: 1536-4801 ISO Abbreviation: J. Pediatr. Gastroenterol. Nutr. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-26 Completed Date: 2010-11-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8211545 Medline TA: J Pediatr Gastroenterol Nutr Country: United States |
Other Details:
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Languages: eng Pagination: 655-60 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Paediatric Liver, University of Padova, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxysteroid Dehydrogenases
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deficiency* Biopsy Chenodeoxycholic Acid / administration & dosage, therapeutic use* Child Child, Preschool Cholagogues and Choleretics / therapeutic use* Cholic Acids / urine* Chromatography, Liquid Dietary Supplements Disease Progression Humans Infant 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* |
| Chemical | |
Reg. No./Substance:
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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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