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17 March 2003

Urinary bile acid profile in children with inborn errors of bile acid metabolism and chronic cholestasis; Screening technique using Electrospray tandem mass-spectrometry (ES/MS/MS).

Ibrahim Yousef, Shahid Perwaiz, Terry Lamireau, Beatriz Tuchweber

Med Sci Monit 2003; 9(3): MT21-31 :: ID: 4721

Abstract

BACKGROUND: It is well known that urine becomes the major route for bile acid excretion in liver diseases and thus we examined bile acid profile in urine obtained from normal children and children having chronic liver diseases using electrospray tandem mass spectrometry (ES/MS/MS). MATERIAL/METHODS: Bile acid were extracted from 5 ml of urine obtained from five healthy children or from twenty patients with various liver diseases including patients with unknown chronic liver diseases, Zellweger syndrome, peroxisomal bifunctional protein deficiency disease, tyrosinema type 1, biliary atresia, and patients with progressive familial intrahepatic cholestasis (PFIC) of undetermined type. Identification and quantification of bile acids were achieved in 5 minutes using electrospray tandem mass spectrometry (ES/MS/MS). RESULTS: Urinary bile acid excretion increased in liver diseases an average of 100 times as compared to control values. There was a specific profile for different liver disease which confirms the pathology of the disease and could be used for its diagnosis. The results also show that the ions used for the diagnosis of oxo-steroid reductase deficiency disease were present in other chronic liver diseases suggesting that these atypical bile acids may not be a result of an inborn error of bile acid metabolism. CONCLUSIONS: The urinary bile acid profile obtained in this study by ES/MS/MS can be of use for the diagnosis of certain chronic liver diseases.

Keywords: Bile Acids and Salts - urine, Biliary Atresia - urine, Cholestasis - urine, Cholestasis, Intrahepatic - genetics, Cholestasis, Intrahepatic - urine, Liver Diseases - urine, Metabolism, Inborn Errors - urine, Peroxisomal Disorders - urine, Tyrosinemias - urine

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Medical Science Monitor eISSN: 1643-3750
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