Alagille syndrome laboratory tests: Difference between revisions
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====Biochemical Evaluation | {{Alagille syndrome}} | ||
{{CMG}} | |||
==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 <ref name="pmid20421762">{{cite journal| author=Kamath BM, Munoz PS, Bab N, Baker A, Chen Z, Spinner NB et al.| title=A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. | journal=J Pediatr Gastroenterol Nutr| year= 2010 | volume= 50 | issue= 5 | pages= 526-30 | pmid=20421762 | doi=10.1097/MPG.0b013e3181cea48d |pmc=PMC2861305 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20421762 }} </ref>. | 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 <ref name="pmid20421762">{{cite journal| author=Kamath BM, Munoz PS, Bab N, Baker A, Chen Z, Spinner NB et al.| title=A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. | journal=J Pediatr Gastroenterol Nutr| year= 2010 | volume= 50 | issue= 5 | pages= 526-30 | pmid=20421762 | doi=10.1097/MPG.0b013e3181cea48d |pmc=PMC2861305 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20421762 }} </ref>. | ||
===Liver Biopsy=== | |||
A liver [[biopsy]] may indicate too few [[bile duct]]s (bile duct paucity). | A liver [[biopsy]] may indicate too few [[bile duct]]s (bile duct paucity). | ||
===X ray=== | |||
An unusual butterfly shape of the bones of the spinal column that can be seen in an [[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== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Pediatrics]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Rare diseases]] | |||
[[Category:Hepatology]] | |||
[[Category:Overview complete]] | |||
Latest revision as of 16:04, 24 July 2012
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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
- ↑ 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.