TY - JOUR
T1 - Differential diagnosis in patients with suspected bile acid synthesis defects
AU - Haas, Dorothea
AU - Gan-Schreier, Hongying
AU - Langhans, Claus Dieter
AU - Rohrer, Tilman
AU - Engelmann, Guido
AU - Heverin, Maura
AU - Russell, David W.
AU - Clayton, Peter T.
AU - Hoffmann, Georg F.
AU - Okun, Jürgen G.
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Bile acid synthesis defects
KW - Biliary atresia
KW - Cholestatic liver disease
KW - Electrospray-ionization tandemmass-spectrometry
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U2 - 10.3748/wjg.v18.i10.1067
DO - 10.3748/wjg.v18.i10.1067
M3 - Article
C2 - 22416181
AN - SCOPUS:84858596661
SN - 1007-9327
VL - 18
SP - 1067
EP - 1076
JO - World Journal of Gastroenterology
JF - World Journal of Gastroenterology
IS - 10
ER -