Differential diagnosis in patients with suspected bile acid synthesis defects

查看全文 作　　者：Dorothea [1]Haas;Hongying Gan-[1]Schreier;Claus-Dieter [1]Langhans;Tilman [2]Rohrer;Guido [3]Engelmann;Maura [4]Heverin;David W [5]Russell;Peter T [6]Clayton;Georg F [1]Hoffmann;Jürgen G [1]Okun

机构地区：[1]Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg D-69120, Germany;[2]Department of Pediatric Endocrinology and Diabetology, University Hospital Saarland, Homburg D-66421, Germany;[3]Department of General Pediatrics, Gastroenterology, University Children's Hospital, Heidelberg D-69120, Germany;[4]Karolinska Institut, Karolinska University Hospital Huddinge, Huddinge 14186, Sweden;[5]Department of Molecular Genetics, UT Southwestern Medical Center, Dallas, TX 75390-9046, United States;[6]Clinical and Molecular Genetics Unit, Institute of Child Health, London WC1N 1EH, United Kingdom

出　　处：《World Journal of Gastroenterology》索引2012年第18卷第10期,共10页

基　　金：Supported by Grants from the United States National Institutes of Health (GM069338 and HL20948) awarded to Russell DW 摘　　要：AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: We describe semiquantitative determination of 16 urinary bile acid metabolites by electrospray ionization-tandem mass spectrometry. Sample preparation was performed by solid-phase extraction. The total analysis time was 2 min per sample. We determined bile acid metabolites in 363 patients with suspected defects in bile acid metabolism. RESULTS: Abnormal bile acid metabolites were found in 36 patients. Two patients had bile acid synthesis defects but presented with atypical presentations. In 2 other patients who were later shown to be affected by biliary atresia and cystic fibrosis the profile of bile acid metabolites was initially suggestive of a bile acid synthesis defect. Three adult patients suffered from cerebrotendinous xanthomatosis. Nineteen patients had peroxisomal disorders, and 10 patients had cholestatic hepatopathy of other cause. CONCLUSION: Screening for urinary cholanoids should be done in every infant with cholestatic hepatopathy as well as in children with progressive neurological disease to provide specific therapy. 关键词：胆汁酸鉴别诊断缺陷患者合成神经系统疾病电喷雾串联质谱样品制备

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Differential diagnosis in patients with suspected bile acid synthesis defects

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