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Partial Bile Duct Ligation in the Mouse: A Controlled Model of Localized Obstructive Cholestasis
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Molecular findings in children with inherited intrahepatic cholestasis

Neng-Li Wang1, Yi Lu1, Jing-Yu Gong2

  • 1The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

Pediatric Research
|August 27, 2019
PubMed

Insights

Genetic defects cause pediatric cholestasis. This study identified 17 genetic disorders in 33.7% of Chinese pediatric patients, with early-onset cases showing higher diagnosis rates.

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics
  • Molecular Biology

Background:

  • Genetic defects are a significant cause of pediatric cholestasis.
  • Understanding these genetic underpinnings is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the molecular genetic findings in a large cohort of Chinese pediatric patients with inherited cholestasis.
  • To identify the spectrum of genetic defects and pathogenic variants.

Main Methods:

  • Sanger sequencing and/or panel sequencing were used.
  • 809 Chinese pediatric patients with suspected inherited intrahepatic cholestasis were evaluated between January 2012 and June 2016.

Main Results:

  • A genetic diagnosis was achieved in 273 out of 809 patients (33.7%).
  • Seventeen distinct genetic disorders were identified, with mutations in SLC25A13, JAG1, ABCB11, and ATP8B1 being the most frequent.
  • Early-onset cholestasis (0-3 months) had a higher rate of positive genetic diagnosis compared to later onset.

Conclusions:

  • Inherited cholestasis in Chinese pediatric patients encompasses 17 distinct genetic disorders.
  • Genetic testing is valuable for diagnosing pediatric cholestasis, particularly in early-onset cases.
Abstract

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