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World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067.

Differential diagnosis in patients with suspected bile acid synthesis defects.

Author information

1
Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Heidelberg D-69120, Germany. dorothea.haas@med.uni-heidelberg.de

Abstract

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.

KEYWORDS:

Bile acid synthesis defects; Biliary atresia; Cholestatic liver disease; Electrospray-ionization tandem-mass-spectrometry

PMID:
22416181
PMCID:
PMC3296980
DOI:
10.3748/wjg.v18.i10.1067
[Indexed for MEDLINE]
Free PMC Article
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