UPMC Experts Publish Comprehensive Overview of Pediatric Primary Genetic Cholestasis
September 19, 2023
One in 2,500 newborns in North America have pathologic cholestatic liver disease. To increase awareness of genetic cholestatic liver diseases in the medical community, researchers from UPMC Children’s Hospital of Pittsburgh, including James. E. Squires, MD, MS, clinical lead, Starzl Network for Excellence in Liver Transplantation, and Maria Amendola, MD, published an overview of pediatric primary genetic cholestasis that is not related to biliary atresia, which encompasses between 25% and 50% of cases. The review, titled “Pediatric Genetic Cholestatic Liver Disease Overview” and published in the National Library of Medicine, details:
- Clinical characteristics
- Diagnosis
- Evaluation strategies
- Genetic counseling
- Management
Cholestasis occurs when the flow of bile is slowed or stopped completely, which causes a host of symptoms in children including jaundice, itching, poor weight gain, and more. This can progress to fibrosis of the liver over time.
The authors provide information about laboratory and liver/abdominal ultrasound findings of cholestasis, which include low-normal or elevated gamma-glutamyl transpeptidase, elevated serum bile acids, and bile duct abnormalities. Genetic causes of cholestatic liver disease are summarized in three tables:
- Table 1: Disorders of transport of bile acids or phospholipids
- Table 2: Disorders of bile acid synthesis
- Table 3: Disorders with extrahepatic metabolic or developmental findings
Evaluation strategies may include family history and molecular genetic testing, and genetic counseling can help determine the mode of inheritance and risk to other family members of the affected individual. A list of support organizations that specialize in genetic counseling is included along with contact information.
Finally, nutritional, medical, and surgical interventions are discussed. Of note, liver transplantation has shown to provide good outcomes when cholestatic liver disease progresses to end-stage liver disease with cirrhosis despite other treatments.
Read the full study.
