Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey

Jahnel, Jörg; Zöhrer, Evelyn; Fischler, Björn; D'Antiga, Lorenzo; Debray, Dominique; Dezsofi, Antal; Haas, Dorothea; Hadzic, Nedim; Jacquemin, Emmanuel; Lamireau, Thierry; Maggiore, Giuseppe; McKiernan, Pat J; Calvo, Pier L; Verkade, Henkjan J; Hierro, Loreto; Mclin, Valérie Anne; Baumann, Ulrich; Gonzales, Emmanuel

doi:10.1097/MPG.0000000000001546

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Title		Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey
Authors		Jahnel, Jörg Zöhrer, Evelyn Fischler, Björn D'Antiga, Lorenzo Debray, Dominique Dezsofi, Antal Haas, Dorothea Hadzic, Nedim Jacquemin, Emmanuel Lamireau, Thierry Maggiore, Giuseppe McKiernan, Pat J Calvo, Pier L Verkade, Henkjan J Hierro, Loreto Mclin, Valérie Anne Baumann, Ulrich Gonzales, Emmanuel show all authors [1 - 18]
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		DOI: 10.1097/MPG.0000000000001546 PMID: 28267072
Full text		Article (Published version) (301 Kb) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique
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. https://archive-ouverte.unige.ch/unige:107753