Conjugated jaundice investigations - part 2
Second Stage Investigations
(Considering history, examination, laboratory findings and specialist advice).
NOTE: these investigations should only be carried out selectively after discussion with the attending neonatal consultant.
Investigation |
Comments |
Results |
Hepatobiliary scintigraphy |
Pre-treat with phenobarbital 5mg/kg nocte for at least 3 days, and continue to scan until 24 hours post isotope, if there has been no excretion before then. |
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Liver biopsy |
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Syphilis serology |
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Viral PCR |
e.g. herpes, CMV |
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Eye examination |
For embryotoxon, chorioretinitis, septo-optic dysplasia |
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X-ray spine |
Looking for butterfly vertebrae |
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Cardiology opinion |
If murmur |
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Tests for rare disorders |
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Lactate |
Flouride oxalate tube |
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Ammonia |
Lithium heparin tube on ice (RHSC) |
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Pyruvate |
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Uric acid, Carnitine |
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Very long chain fatty acids |
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Urine and serum for inborn errors of bile salt metabolism |
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Acyl carnitines |
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Alpha fetoprotein |
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Isoelectric focussing of transferrin |
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Karyotype, cholestasis gene panel, mitochondrial DNA mutations and mtDNA depletion syndrome and/or perforin expression |
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White cell enzymes either glycogen or lysosomal storage |
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CSF for protein and lactate |
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Tubular re-absorption of phosphate |
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Ferritin and transferring saturation |
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MRI head |
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Muscle biopsy for mitochondrial cytopathy |
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Bone marrow for storage disorders |
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Skin biopsy for fibroblast culture |
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