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Updated: Oct 26, 2025
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study
Paula M Hertel1, Kieran Hawthorne2, Sehee Kim3
1Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
Insights
Infantile idiopathic cholestasis (IC) is less frequent than previously thought, with excellent outcomes in most infants. Early diagnosis of genetic causes improves prognosis for this liver condition.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Neonatology
Background:
- Infantile idiopathic cholestasis (IC) is a liver disease affecting infants.
- Previous studies on IC frequency and outcomes are limited.
- Understanding the natural history of IC is crucial for diagnosis and management.
Purpose of the Study:
- To determine the frequency and natural history of infantile idiopathic cholestasis (IC).
- To analyze clinical outcomes in a large cohort of infants diagnosed with IC.
- To investigate factors contributing to IC and its resolution.
Main Methods:
- Prospective, multicenter study of 94 cholestatic infants diagnosed with IC up to 6 months of age.
- Follow-up of participants for up to 30 months.
- Analysis of clinical outcomes including death, liver transplant, and biochemical resolution.
Main Results:
- Male sex, preterm birth, and low birth weight were frequent in the cohort.
- Biochemical resolution occurred in 51 infants by a median of 9 months.
- Death or liver transplant occurred in only 2 infants, a lower frequency than previously reported.
Conclusions:
- The frequency of IC and severe outcomes is lower than previously reported, likely due to advances in diagnosing genetic causes.
- Preterm birth and neonatal vulnerability may contribute to IC.
- Overall outcomes for infantile idiopathic cholestasis are excellent, with a significant proportion achieving biochemical resolution.
Objectives:
The aim of the study was to determine the frequency and natural history of infantile idiopathic cholestasis (IC) in a large, prospective, multicenter cohort of infants.
Methods:
We studied 94 cholestatic infants enrolled up to 6 months of age in the NIDDK ChiLDReN (Childhood Liver Disease Research Network) "PROBE" protocol with a final diagnosis of IC; they were followed up to 30 months of age.
Results:
Male sex (66/94; 70%), preterm birth (22/90 with data; 24% born at < 37 weeks' gestational age), and low birth weight (25/89; 28% born at <2500 g) were frequent, with no significant differences between outcomes. Clinical outcomes included death (n = 1), liver transplant (n = 1), biochemical resolution (total bilirubin [TB] ≤1 mg/dL and ALT < 35 U/L; n = 51), partial resolution (TB > 1 mg/dL and/or ALT > 35 U/L; n = 7), and exited healthy (resolved disease per study site report but without documented biochemical resolution; n = 34). Biochemical resolution occurred at median of 9 months of age. GGT was <100 U/L at baseline in 34 of 83 participants (41%).
Conclusions:
Frequency of IC and of death or liver transplant was less common in this cohort than in previously published cohorts, likely because of recent discovery and diagnosis of genetic etiologies of severe/persistent cholestasis that previously were labeled as idiopathic. Preterm birth and other factors associated with increased vulnerability in neonates are relatively frequent and may contribute to IC. Overall outcome in IC is excellent. Low/normal GGT was common, possibly indicating a role for variants in genes associated with low-GGT cholestasis-this warrants further study.
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