Study of Family Clustering and PNPLA3 Gene Polymorphism in Pediatric Non Alcoholic Fatty Liver Disease

ABSTRACT

Objectives: To find association of pediatric NAFLD with metabolicrisk factors, and Patatin-like phospholipase domain-containingprotein 3 (PNPLA3) gene polymorphism.Design: Cross-sectional studySetting: Pediatric Hepatology unit of a tertiary care hospitalParticipants: Overweight/obese children (<18 years) with (69patients) or without (30 patients) NAFLD (ultrasonographybased), and their parents.Intervention Metabolic screening, PNPLA3 gene polymorphism,and transient elastographyOutcome measure: Association of pediatric NAFLD with parentalmetabolic risk factors and PNPLA3 gene polymorphism.Results: In the NAFLD group, there was high parental incidenceof metabolic diseases, fatty liver (80%) and low high-densitylipoproteins levels (84%). Family history of NAFLD (in any parent),higher alanine aminotransferase levels and higher totalcholesterol levels in the child independently predicted possibilityof NAFLD, but similar results could not be replicated for PNPLA3gene polymorphism. Controlled attenuation parametermeasurement (by transient elastography) had high sensitivity andspecificity to diagnose steatosis.Conclusion: There is high familial incidence of metabolicdiseases in children with NAFLD. Controlled attenuationparameter can be useful as a non-invasive modality to screen fattyliver in children.