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

OBJECTIVE: To find association of pediatric NAFLD with metabolic risk factors, and Patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene polymorphism.

DESIGN: Cross-sectional study.

SETTING: Pediatric Hepatology unit of a tertiary care hospital.

PARTICIPANTS: Overweight/obese children (<18 years) with (69 patients) or without (30 patients) NAFLD (ultrasonography based), and their parents.

INTERVENTION: Metabolic screening, PNPLA3 gene polymorphism, and transient elastography.

OUTCOME MEASURE: Association of pediatric NAFLD with parental metabolic risk factors and PNPLA3 gene polymorphism.

RESULTS: In the NAFLD group, there was high parental incidence of metabolic diseases, fatty liver (80%) and low high-density lipoproteins levels (84%). Family history of NAFLD (in any parent), higher alanine aminotransferase levels and higher total cholesterol levels in the child independently predicted possibility of NAFLD, but similar results could not be replicated for PNPLA3 gene polymorphism. Controlled attenuation parameter measurement (by transient elastography) had high sensitivity and specificity to diagnose steatosis.

CONCLUSIONS: There is high familial incidence of metabolic diseases in children with NAFLD. Controlled attenuation parameter can be useful as a non-invasive modality to screen fatty liver in children.