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Research ArticlePractice

Early diagnosis of neonatal cholestatic jaundice

Test at 2 weeks

Eric I. Benchimol, Catharine M. Walsh and Simon C. Ling
Canadian Family Physician December 2009, 55 (12) 1184-1192;
Eric I. Benchimol
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Catharine M. Walsh
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Simon C. Ling
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  • For correspondence: simon.ling@sickkids.ca
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    Figure 1

    Algorithm for investigation of the neonate with cholestatic jaundice

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    Table 1

    Differential diagnoses and diagnostic approaches for infants with cholestasis

    DISEASEDIAGNOSTIC APPROACH
    Obstructive cholestasis
    Structural
      • Biliary atresiaUltrasound (presence, size, and appearance of gallbladder; evidence of cirrhosis and portal hypertension, polysplenia, or asplenia)
    Hepatobiliary s cintigraphy (delayed or absent excretion)
    Liver biopsy
    Intraoperative cholangiogram
      • Choledochal cyst, or other congenital bile duct anomalyUltrasound
    Cholangiogram (percutaneous and scintigraphic, to show communication with biliary tree and to rule out associated atresia)
      • Caroli disease and congenital hepatic fibrosisUltrasound (liver and kidneys)
    Liver biopsy (rarely required)
      • Gallstones or biliary sludgeUltrasound
      • Neonatal sclerosing cholangitisCholangiogram (endoscopic retrograde, percutaneous or intraoperative)
    Duct paucity syndrome
      • Alagille syndromePhysical examination for typical facial features, which might not be obvious during newborn period (broad forehead, pointed chin, elongated nose with bulbous tip)
    Chest x-ray scan (butterfly vertebrae)
    Ophthalmologic examination (posterior embryotoxon)
    Echocardiogram (peripheral pulmonic stenosis)
    Liver biopsy (paucity of small ducts)
    Genetic analysis (mutations in JAG1 gene)
    Hepatocellular cholestasis
      • Idiopathic neonatal hepatitisDiagnosed by exclusion of other causes of neonatal liver disease
    Liver biopsy (often not required)
    Genetic and metabolic disorders
      • α 1-Antitrypsin deficiency∝1-Antitrypsin levels (reduced)
    Protein or genetic analysis (homozygous Pi type ZZ, SZ, or other rare deficiency variant)
      • GalactosemiaResults of newborn screening
    Non–glucose reducing substances (positive)
    Galactose-1-phosphate uridyl transferase in red blood cells (low activity)
    Blood cultures (association with Escherichia coli sepsis)
      • TyrosinemiaResults of newborn screening
    Serum tyrosine and methionine levels (high)
    Serum α-fetoprotein levels (high)
    Succinylacetone detection in urine
      • Hereditary fructosemiaFructose-1-phosphate aldolase B activity low or absent in liver tissue
    Liver biopsy with EM
    Genetic analysis
      • Neonatal hemochromatosisFerritin (high, usually > 1000 μg/L)
    Total iron binding capacity (low)
    Liver biopsy with iron stain, or buccal mucosal biopsy
    MRI (abdomen, for typical pattern of iron deposition)
      • Cystic fibrosisResults of newborn screening
    Sweat chloride test
    Genetic analysis
      • Inborn errors of bile acid synthesisUrinary bile acid analysis
      • Progressive familial intrahepatic cholestasisGGT (low to normal in types 1 and 2, high in type 3)
    Liver biopsy
    Genetic analysis
    Endocrine disorders
      • HypothyroidismResults of newborn screening
    TSH (high), free T4 (usually low)
      • PanhypopituitarismGlucose (hypoglycemia common)
    Cortisol (low)
    TSH (low), T4 (low)
    Toxic or secondary disorders
      • Parenteral nutrition–associated cholestasisCorrelation with clinical history
    Exclusion of other causes of cholestasis
      • Drugs (acetaminophen, anticonvulsants, etc)Correlation with clinical history
    Urine and serum toxicology screen
    Infectious disorders
      • ToxoplasmosisIgM-specific antibodies (detectable 2 weeks after infection, peak approximately 4 weeks after infection)
    Isolation of organism from blood, CSF, or liver
    Ophthalmologic examination (chorioretinitis)
    CT (head, intracranial calcifications)
      • RubellaIgM-specific antibodies (detectable 2 weeks after infection)
    Viral isolation (CSF, liver, urine, pharyngeal secretions)
    Ophthalmologic examination (cataracts)
      • CytomegalovirusIgM-specific antibodies
    Viral isolation from blood, urine, CSF
    Ophthalmologic examination (for chorioretinitis)
    CT (head, intracranial calcifications)
      • Herpes simplex virusEM or viral culture of vesicle scrapings
    PCR of blood and CSF
      • Human immunodeficiency virusHIV DNA PCR
    Immunoglobulin levels
    CD4 count
      • SyphilisVDRL test
    Syphilis indirect hemagglutination test (TPHA)
    Fluorescent treponemal antibody levels
    Long-bone x-ray scans (osteochondritis, periostitis)
      • Urinary tract infectionUrine culture, full septic workup where indicated
      • SepsisBlood culture, full septic workup where indicated
    • Adapted from Walsh et al.5

    • CSF—cerebrospinal fluid, CT—computed tomography, DNA—deoxyribonucleic acid, EM—electron microscopy, GGT—γ-glutamyltransferase, HIV—human immunodeficiency virus, IgM—immunoglobulin M, MRI—magnetic resonance imaging, PCR—polymerase chain reaction, T4—thyroxine, TPHA—treponema pallidum hemagglutination, TSH—thyroid stimulating hormone, VDRL—venereal disease research laboratory.

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    Table 2

    Summary of recommendations and evidence base for strategies to improve outcome of patients with neonatal cholestasis

    RECOMMENDATIONSTRATEGYEVIDENCE
    Test at 2 weeks (fractionated bilirubin levels at 2–3 weeks of age)Early identification of neonatal cholestasisLevel III: Guidelines from professional organizations (NASPGHAN, CPS, AAP)
    Application of diagnostic algorithm and early referral to pediatric gastroenterologistAccurate diagnosis of cause of cholestasis enables early initiation of treatmentLevel III: Case series, guidelines from professional organizations (NASPGHAN, CPS, AAP)
    Immediate intervention to address the underlying condition if cholestasis is identifiedEarly intervention improves outcomes of biliary atresia, congenital hypothyroidism, galactosemia, tyrosinemia, congenital CMV infectionLevel II and III: Retrospective cohort studies, guidelines from professional organizations (NASPGHAN)
    Further investigation of efficacy and feasibility of screening for neonatal cholestasisEarly identification of neonatal cholestasis results in early interventionLevel II: Prospective cohort studies
    • AAP—American Academy of Pediatrics, CMV—cytomegalovirus, CPS—Canadian Paediatric Society, NASPGHAN—North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.

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Canadian Family Physician: 55 (12)
Canadian Family Physician
Vol. 55, Issue 12
1 Dec 2009
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Early diagnosis of neonatal cholestatic jaundice
Eric I. Benchimol, Catharine M. Walsh, Simon C. Ling
Canadian Family Physician Dec 2009, 55 (12) 1184-1192;

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Eric I. Benchimol, Catharine M. Walsh, Simon C. Ling
Canadian Family Physician Dec 2009, 55 (12) 1184-1192;
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  • Article
    • Abstract
    • Quality of evidence
    • Evaluation of neonatal cholestasis
    • Management and outcome of biliary atresia
    • Importance of early diagnosis
    • Screening for cholestatic jaundice
    • Conclusion
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