Research Day

Title

GENETIC CAUSES OF CHRONIC LIVER DISEASE IN PEDIATRICS

Document Type

Abstract

Date

2021

Abstract

Background: While nonalcoholic fatty liver is the leading cause of chronic liver disease in children and adolescents, genetic diagnoses remain an important cause. Genetic diseases that commonly cause cirrhosis in the infant population include metabolic disorders while the older pediatric population is generally affected by Wilson's disease and alpha-1-antitrypsin deficiency.

Objective: Identifying the underlying genetic causes of chronic liver disease in children is important because early identification can help prevent long-term complications. Our goal is to identify the most common diagnoses associated with chronic liver disease and their associated complications in children to advocate for additional funding for research.

Methods: Using the HCUP-KID database, we aimed to characterize hospital admissions of children with chronic liver disease from genetic causes. We also planned to evaluate the frequency of potential complications that may arise from chronic liver disease such as malnutrition and portal hypertension. Results: ~11% of pediatric hospitalizations involving chronic liver disease were associated with a genetic disorder/syndrome diagnosis. The next largest group was complex molecule disorders (2.48%), followed by urea cycle defects (1.59%). Hospitalizations associated with chronic liver disease and a diagnosis of carbohydrate disorders, mitochondrial disorders, disorders of fatty acid oxidation, organic acid disorders, and protein metabolism/amino acid disorders totaled less than 1% each.

Discussion: Genetic syndromes including cystic fibrosis, alpha-1-antitrypsin deficiency, and hereditary hemochromatosis were the most common group of diagnoses associated with pediatric hospitalizations involving chronic liver disease. Further characterization of the complications and outcomes of chronic liver disease can aid in research and eventually treatment.

This document is currently not available here.

Share

COinS