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• W1979010903 abstract "In order to characterize the natural course of Shwachman-Diamond syndrome (SDS)-associated hepatopathy we evaluated liver biochemistry and imaging findings, and their evolution with age, in patients with SDS and verified SBDS mutations.Retrospective and cross-sectional liver imaging, biochemical and histologic data of 12 patients (age range 2.1 to 37 years) with SBDS mutations were analyzed. Hepatic volume and parenchymal structure were determined from magnetic resonance imaging data.Hepatomegaly and aminotransaminase elevation was observed in most of the patients with SDS at an early age; values normalized by age 5 years and remained normal over extended follow-up. Mild to moderate serum bile acid elevation was noted in 7 patients (58%). On magnetic resonance imaging, no patients (n = 11) had evidence of hepatic steatosis, cirrhosis, or fibrosis. Three middle-aged patients had hepatic microcysts.SDS-associated hepatopathy has overall good prognosis. No major hepatic abnormalities developed during extended follow-up to adulthood. Mild cholestasis in follow-up even after normalization of transaminase levels may reflect primary alterations in liver metabolism in SDS." @default.
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• W1979010903 date "2009-12-01" @default.
• W1979010903 modified "2023-10-17" @default.
• W1979010903 title "The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to Adulthood" @default.
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• W1979010903 doi "https://doi.org/10.1016/j.jpeds.2009.06.047" @default.
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