Alagille syndrome laboratory tests

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Biochemical Evaluation

Total Bilirubin >6.5 mg/dL, Conjugated Bilirubin >4.5 mg/dL, and cholesterol >520 mg/dL in children younger than 5 years of age are likely be associated with severe liver disease in later life [1].

Liver Biopsy

A liver biopsy may indicate too few bile ducts (bile duct paucity).

X ray

An unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray

References

  1. Kamath BM, Munoz PS, Bab N, Baker A, Chen Z, Spinner NB; et al. (2010). "A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome". J Pediatr Gastroenterol Nutr. 50 (5): 526–30. doi:10.1097/MPG.0b013e3181cea48d. PMC 2861305. PMID 20421762.