Etiology, clinical spectrum and outcome of metabolic liver diseases in children.

OBJECTIVE

To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India.

STUDY DESIGN

An observational study.

PLACE AND DURATION OF STUDY

Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011.

METHODOLOGY

All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months.

RESULTS

Fifty one children with mean age 4.34 ± 3.78 years (range 2 days - 12 years), male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease (33.33%, n = 17); glycogen storage disorder (23.53%, n = 12); galactosemia (19.61%, n = 10); non-alcoholic fatty liver disease (11.76%, n = 6); Gaucher disease (5.88%, n = 3); mucopolysaccharidoses (3.92%, n = 2) and familial hyperlipoproteinemia type-I (1.96%, n = 1). Jaundice (n = 24) and hepatomegaly (n = 47), was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease (n = 7) cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis (p = 0.026).

CONCLUSION

High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs.