AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: We describe semiquantitative determin...AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: We 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. We 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.展开更多
Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The...Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The well-known limitations of this technique(i.e.,pain,bleeding and the need for sedation) have precluded its routine use in follow-up of patients with liver diseases.However,the introduction of non-invasive technologies,such as ultrasound and magnetic resonance imaging,for measurement of liver stiffness as an indirect marker of fibroses has changed this situation.Today,several noninvasive tools are available to physicians to estimate the degree of liver fibrosis by analysing liver stiffness.This review describes the currently available tools for liver stiffness determination that are applicable to follow-up of liver fibrosis/cirrhosis with established clinical use in children,and discusses their features in comparison to the "historical" tools.展开更多
基金Supported by Grants from the United States National Institutes of Health (GM069338 and HL20948) awarded to Russell DW
文摘AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: We 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. We 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.
文摘Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The well-known limitations of this technique(i.e.,pain,bleeding and the need for sedation) have precluded its routine use in follow-up of patients with liver diseases.However,the introduction of non-invasive technologies,such as ultrasound and magnetic resonance imaging,for measurement of liver stiffness as an indirect marker of fibroses has changed this situation.Today,several noninvasive tools are available to physicians to estimate the degree of liver fibrosis by analysing liver stiffness.This review describes the currently available tools for liver stiffness determination that are applicable to follow-up of liver fibrosis/cirrhosis with established clinical use in children,and discusses their features in comparison to the "historical" tools.
