Alagille syndrome laboratory tests

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

In addition to various imaging modalities, laboratory tests may be conducted evaluating the bilirubin levels. A liver biopsy may also be conducted on the bile duct to further supplement bilirubin testing.

Laboratory Tests

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

Molecular genetic testing

Sequence analysis of JAG1 detects mutation in 90% of individuals with symptoms. Around 7% of affected individuals have microdeletion of 20p12. Mutations in NOTCH2 is found in less than 1%. If family-specific mutation is known, molecular genetic testing is offered to first-degree relatives.

Prenatal testing

Prenatal testing for pregnancies at increased risk is possible if the JAG1 or NOTCH2 disease-causing mutation in an affected family member is known. Prenatal testing cannot predict the occurrence or severity of clinical manifestations.

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.

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