Document Detail

Differential diagnosis in patients with suspected bile acid synthesis defects.
MedLine Citation:
PMID:  22416181     Owner:  NLM     Status:  MEDLINE    
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.
Dorothea Haas; Hongying Gan-Schreier; Claus-Dieter Langhans; Tilman Rohrer; Guido Engelmann; Maura Heverin; David W Russell; Peter T Clayton; Georg F Hoffmann; Jürgen G Okun
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  18     ISSN:  2219-2840     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-03-14     Completed Date:  2012-05-15     Revised Date:  2014-05-20    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  1067-76     Citation Subset:  IM    
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MeSH Terms
Bile Acids and Salts / biosynthesis*,  urine
Child, Preschool
DNA Mutational Analysis
Diagnosis, Differential
Infant, Newborn
Liver Diseases / diagnosis*,  physiopathology
Oxidoreductases / deficiency,  genetics
Peroxisomal Disorders / diagnosis,  genetics
Young Adult
Grant Support
Reg. No./Substance:
0/Bile Acids and Salts; EC 1.-/Oxidoreductases

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