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Titration of Bile Acid Supplements in 3β-Hydroxy-Δ5-C27-Steroid Dehydrogenase/Isomerase Deficiency

Riello, L*; D'Antiga, L*; Guido, M; Alaggio, R; Giordano, G*; Zancan, L*

Journal of Pediatric Gastroenterology & Nutrition: June 2010 - Volume 50 - Issue 6 - p 655–660
doi: 10.1097/MPG.0b013e3181b97bd2
Original Articles: Hepatology and Nutrition

Objectives: 3β-Hydroxy-Δ5-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 3β,7α-dihydroxy-5-cholenoic acid (u-3β-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-3β-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-3β-D-OH-5C levels was 5/5 mg · kg−1 · day−1. A follow-up biopsy in 2 patients showed no progression of liver disease.

Conclusions: A mixture of UDCA/CDCA can effectively control 3β-hydroxy-Δ5-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.

*Department of Paediatrics, Paediatric Liver, Italy

Department of Diagnostic Science and Special Therapies, University of Padova, Italy.

Received 12 February, 2009

Accepted 25 June, 2009

Address correspondence and reprint requests to Lorenzo D'Antiga, Paediatric Department, University of Padova, Via Giustiniani 3, 35128 Padova, Italy (e-mail: lorenzo.dantiga@pediatria.unipd.it).

The authors report no conflicts of interest.

© 2010 Lippincott Williams & Wilkins, Inc.