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Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey |
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Published in | Journal of Pediatric Gastroenterology and Nutrition. 2017, vol. 64, no. 6, p. 864-868 | |
Abstract | Inborn errors of primary bile acid (BA) synthesis are genetic cholestatic disorders leading to accumulation of atypical BA with deficiency of normal BA. Unless treated with primary BA, chronic liver disease usually progresses to cirrhosis and liver failure before adulthood. We sought to determine the prevalence of 2 common disorders, 3β-hydroxy-Δ-C27-steroid dehydrogenase (3β-HSD) and Δ-3-oxosteroid-5β-reductase (Δ-3-oxoR) deficiencies and to describe current diagnostic and treatment strategies among different European paediatric hepatology centres. | |
Keywords | Adrenal Hyperplasia — Congenital/diagnosis/epidemiology/therapy — Europe/epidemiology — Health Surveys — Humans — Oxidoreductases/deficiency — Prevalence — Steroid Metabolism — Inborn Errors/diagnosis/epidemiology/therapy | |
Identifiers | PMID: 28267072 | |
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Research group | Développement du tube digestif chez les vertébrés (900) | |
Citation (ISO format) | JAHNEL, Jörg et al. Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey. In: Journal of Pediatric Gastroenterology and Nutrition, 2017, vol. 64, n° 6, p. 864-868. doi: 10.1097/MPG.0000000000001546 https://archive-ouverte.unige.ch/unige:107753 |