The Saudi Journal of Gastroenterology · Published 2025-10-15 · DOI 10.4103/sjg.sjg_321_25
Background:The objective of our study was to determine whether biochemical tests, frequently requested at first presentation of infants with cholestasis, have a role in focusing investigations toward certain disease entities.Methods:All infants with cholestasis (2008 to 2020) were identified and reviewed for final diagnosis and serum levels of alanine aminotransferase (ALT), gamma-glutamyl transferase (GGT), lactate, cholesterol, ferritin, alpha-fetoprotein (AFP), total bile acids (TBAs), and hypoglycemia at first presentation.Results:ALT levels were normal in all infants with Dubin–Johnson syndrome. A normal TBA (0–10 μmol/L) in an infant with normal-GGT cholestasis was consistent with bile acids synthesis disorders (BASDs). There was a dichotomy pattern of “high-GGT cholestasis” [associated with biliary obstruction, Alagille syndrome, ciliopathies, mitochondrial hepatopathies] and “low GGT cholestasis”, [associated with mutations in ATP8B1, ABCB11, TJP2, USP53, LSR, MYO5B, VIP AS39, NR1H4, BASD, galactosemia, gestational alloimmune liver disease (GALD), and endocrine causes]. Plasma lactate level was significantly elevated in infants with mitochondrial hepatopathies and hemophagocytic lymphohistiocytosis (HLH) [median 5.8 mmol/L and 7.7 mmo/L, respectively; P < 0.001]. The highest ferritin concentrations were in infants with HLH and GALD [medians 4883 μg/L and 2098 μg/L, respectively; P < 0.001]. The most marked elevation of AFP was consistent in all infants with mitochondrial hepatopathies, tyrosinemia, and GALD (median: 99637 ng/mL, 40000 ng/mL; 22566 ng/mL) as compared to causes of biliary obstruction (median: 3662 ng/mL). Hypoglycemia with preserved liver synthetic function was associated with metabolic or endocrine disorders.Conclusion:Although none of these biochemical tests is diagnostic in itself, they can be actionable red flags to triage infants with cholestasis toward the most appropriate specific investigations.
Abstract from DOAJ. Public domain (CC0 1.0).
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