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Neonatal cholestasis: opportunities to increase early detection.

ABSTRACT: To describe primary care management of early and prolonged jaundice in otherwise-healthy term infants to identify opportunities to increase early diagnosis of cholestasis.Community-based pediatricians in St Louis, Missouri completed a mailed, anonymous, 29-item survey to assess practice demographics, timing of routine newborn office visits, and the management of early and prolonged neonatal jaundice.A total of 108 of 230 (47%) of eligible physicians responded (mean years in practice, 15.3, SD, 9.4). More respondents were very familiar with national guidelines for management of early (49%) than prolonged (16%) neonatal jaundice. Eighty-six percent reported all newborns were checked with transcutaneous bilirubin before hospital discharge. For transcutaneous bilirubin results at 48 hours of 7, 10, 12 and 15 mg/dL, 1%, 26%, 70%, and 74% of respondents, respectively, would order a fractionated bilirubin. Although the first routine visit usually occurred in the first week after discharge, 25% of physicians reported the 2nd visit was routinely scheduled after 4 weeks of age. Ninety-four percent reported they would obtain a fractionated bilirubin for infants jaundiced beyond 4 weeks of age. If cholestasis was identified at 6 weeks of age, 32% would obtain additional testing without referral to a subspecialist.Management of early and prolonged neonatal jaundice is variable. Current practices appear to miss opportunities for early diagnosis of cholestasis and referral that are unlikely to be addressed without redesigning systems of care.

SUBMITTER: Palermo JJ

PROVIDER: S-EPMC3398230 | biostudies-literature | 2012 Jul-Aug

REPOSITORIES: biostudies-literature

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Neonatal cholestasis: opportunities to increase early detection.

Palermo Joseph J JJ Joerger Shannon S Turmelle Yumirle Y Putnam Peter P Garbutt Jane J

Academic pediatrics 20120526 4

<h4>Objective</h4>To describe primary care management of early and prolonged jaundice in otherwise-healthy term infants to identify opportunities to increase early diagnosis of cholestasis.<h4>Methods</h4>Community-based pediatricians in St Louis, Missouri completed a mailed, anonymous, 29-item survey to assess practice demographics, timing of routine newborn office visits, and the management of early and prolonged neonatal jaundice.<h4>Results</h4>A total of 108 of 230 (47%) of eligible physici ...[more]

PMID: 22634076

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Project description:AimTo explore differences in biochemical indices between neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and that with other etiologies.MethodsPatients under 6 mo of age who were referred for investigation of conjugated hyperbilirubinaemia from June 2003 to December 2010 were eligible for this study. After excluding diseases affecting the extrahepatic biliary system, all patients were screened for the two most common SLC25A13 mutations; the coding exons of the entire SLC25A13 gene was sequenced and Western blotting of citrin protein performed in selected cases. Patients in whom homozygous or compound heterozygous SLC25A13 mutation and/or absence of normal citrin protein was detected were defined as having NICCD. Cases in which no specific etiological factor could be ascertained after a comprehensive conjugated hyperbilirubinaemia work-up were defined as idiopathic neonatal cholestasis (INC). Thirty-two NICCD patients, 250 INC patients, and 39 infants with cholangiography-confirmed biliary atresia (BA) were enrolled. Laboratory values at their first visit were abstracted from medical files and compared.ResultsCompared with BA and INC patients, the NICCD patients had significantly higher levels of total bile acid (TBA) [all measures are expressed as median (inter-quartile range): 178.0 (111.2-236.4) μmol/L in NICCD vs 112.0 (84.9-153.9) μmol/L in BA and 103.0 (70.9-135.3) μmol/L in INC, P = 0.0001]. The NICCD patients had significantly lower direct bilirubin [D-Bil 59.6 (43.1-90.9) μmol/L in NICCD vs 134.0 (115.9-151.2) μmol/L in BA and 87.3 (63.0-123.6) μmol/L in INC, P = 0.0001]; alanine aminotransferase [ALT 34.0 (23.0-55.0) U/L in NICCD vs 108.0 (62.0-199.0) U/L in BA and 84.5 (46.0-166.0) U/L in INC, P = 0.0001]; aspartate aminotransferase [AST 74.0 (53.5-150.0) U/L in NICCD vs 153.0 (115.0-239.0) U/L in BA and 130.5 (81.0-223.0) U/L in INC, P = 0.0006]; albumin [34.9 (30.7-38.2) g/L in NICCD vs 38.4 (36.3-42.2) g/L in BA and 39.9 (37.0-42.3) g/L in INC, P = 0.0001]; glucose [3.2 (2.0-4.4) mmol/L in NICCD vs 4.1 (3.4-5.1) mmol/L in BA and 4.0 (3.4-4.6) mmol/L in INC, P = 0.0014] and total cholesterol [TCH 3.33 (2.97-4.00) mmol/L in NICCD vs 4.57 (3.81-5.26) mmol/L in BA and 4.00 (3.24-4.74) mmol/L in INC, P = 0.0155] levels. The D-Bil to total bilirubin (T-Bil) ratio was significantly lower in NICCD patients [all measures are expressed as median (inter-quartile range): 0.54 (0.40-0.74)] than that in BA patients [0.77 (0.72-0.81), P = 0.001] and that in INC patients [0.74 (0.59-0.80), P = 0.0045]. A much higher AST/ALT ratio was found in NICCD patients [2.46 (1.95-3.63)] compared to BA patients [1.38 (0.94-1.97), P = 0.0001] and INC patients [1.48 (1.10-2.26), P = 0.0001]. NICCD patients had significantly higher TBA/D-Bil ratio [3.36 (1.98-4.43) vs 0.85 (0.72-1.09) in BA patients and 1.04 (0.92-1.14) in INC patients, P = 0.0001], and TBA/TCH ratio [60.7 (32.4-70.9) vs 24.7 (19.8-30.2) in BA patients and 24.2 (21.4-26.9) in INC patients, P = 0.0001] compared to the BA and INC groups.ConclusionNICCD has significantly different biochemical indices from BA or INC. TBA excretion in NICCD appeared to be more severely disturbed than that of bilirubin and cholesterol.

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Neonatal cholestasis: opportunities to increase early detection.

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Neonatal cholestasis: opportunities to increase early detection.

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