title: Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.
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.
  
  
  
  A total of 52 clinical paediatric centres were approached and 39 centres in 21 countries agreed to participate in the Web-based survey. The survey comprised questions regarding general information, number of cases, diagnostic, and therapeutic management.
  
  
  
  Seventeen centres located in 11 countries reported patients with inborn errors in primary BA synthesis, 22 centres never had cases diagnosed. In total, we could identify 63 patients; 55 with 3β-HSD and 8 with Δ-3-oxoR deficiency in 21 countries. The minimum estimated combined prevalence of these diseases was 1.13 cases per 10 million (0.99 and 0.14 for 3β-HSD and Δ-3-oxoR deficiencies, respectively). The surveyed colleagues indicated their main challenges to be the rarity of diseases and the lack of convenient laboratory facilities nearby.
  
  
  
  We have identified the largest cohort of patients with 3β-HSD or Δ-3-oxoR deficiency described so far. These diseases are likely underdiagnosed mainly due to unawareness of their existence and the lack of laboratory facilities.
authors.affiliation: *Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria †Department of Paediatrics, CLINTEC, Karolinska University Hospital, Stockholm, Sweden ‡Paediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy §Pediatric Hepatology Unit, Hôpital Necker-Enfants-Malades, Paris, France ||First Department of Paediatrics, Semmelweis University, Budapest, Hungary ¶Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany #Paediatric Centre for Hepatology, Gastroenterology and Nutrition, King's College Hospital, London, UK **Pediatric Hepatology and Liver Transplantation Unit, Hôpital Bicêtre, Reference Centre for Pediatric Liver Diseases-DHU Hepatinov, Assistance Publique-Hôpitaux de Paris and INSERM UMR-S 1174, Université Paris-Sud 11, Le Kremlin-Bicêtre ††Pediatric Hepatology and Gastroenterology Unit, University Children's Hospital, Bordeaux, France ‡‡Department of Medical Sciences, Paediatric Section, University Hospital Arcispedale Sant'Anna, University of Ferrara, Ferrara, Italy §§Division of Gastroenterology/Hepatology/Nutrition, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA ||||Department of Pediatrics, Pediatric Gastroenterology Unit, Azienda Ospedaliera-Universitaria Citta[Combining Grave Accent] della Salute e della Scienza di Torino, University of Torino, Torino, Italy ¶¶Department of Paediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands ##Paediatric Hepatology Service, Hospital Infantil Universitario "La Paz," Madrid, Spain ***Paediatric Gastroenterology Unit, Department of Pediatrics, University Hospitals Geneva, Geneva, Switzerland †††Division of Paediatric Gastroenterology and Hepatology, Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Jahnel
authors.forename: Evelyn
authors.initials: E
authors.lastname: Zöhrer
authors.forename: Björn
authors.initials: B
authors.lastname: Fischler
authors.forename: Lorenzo
authors.initials: L
authors.lastname: D'Antiga
authors.forename: Dominique
authors.initials: D
authors.lastname: Debray
authors.forename: Antal
authors.initials: A
authors.lastname: Dezsofi
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Nedim
authors.initials: N
authors.lastname: Hadzic
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
authors.forename: Thierry
authors.initials: T
authors.lastname: Lamireau
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
authors.forename: Pat J
authors.initials: PJ
authors.lastname: McKiernan
authors.forename: Pier L
authors.initials: PL
authors.lastname: Calvo
authors.forename: Henkjan J
authors.initials: HJ
authors.lastname: Verkade
authors.forename: Loreto
authors.initials: L
authors.lastname: Hierro
authors.forename: Valerie
authors.initials: V
authors.lastname: McLin
authors.forename: Ulrich
authors.initials: U
authors.lastname: Baumann
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Gonzales
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D005060:Europe / Q000453:epidemiology; D006306:Health Surveys; D006801:Humans; D010088:Oxidoreductases / Q000172:deficiency*; D015995:Prevalence; D043202:Steroid Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy
chemical_list: D010088:Oxidoreductases; C051860:cholestenone 5 beta-reductase