首页|Differential diagnosis in patients with suspected bile acid synthesis defects

Differential diagnosis in patients with suspected bile acid synthesis defects

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AIM:To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls.METHODS:Authors 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.Authors 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.

Cholestatic liver diseaseBile acid synthesis defectsBiliary atresiaElectrospray-ionization tandem-mass-spectrometry

Dorothea Haas、Hongying Gan-Schreier、Claus-Dieter Langhans、Tilman Rohrer、Guido Engelmann、Maura Heverin、David W Russell

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Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg D-69120, Germany

Department of Pediatric Endocrinology and Diabetology, University Hospital Saarland, Homburg D-66421,Germany

Department of General Pediatrics, Gastroenterology, University Children's Hospital, Heidelberg D-69120,Germany

Karolinska University Hospital Huddinge, Huddinge 14186, Sweden

Department of Molecular Genetics, UT South-western Medical Center, Dallas, TX 75390-9046, United States

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Grants from the United States National Institutes of HealthGrants from the United States National Institutes of Health

GM06933820948

2012

10.3748/wjg.v18.i10.1067

世界胃肠病学杂志(英文版)
太原消化病研治中心

世界胃肠病学杂志(英文版)

SCI
影响因子：1.001
ISSN：1007-9327
年,卷(期)：2012.18(10)
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