Overview - Santosh Mittal
Hepatitis - Iqbal Memon
Neonatal Cholestasis- Anupam Sibal

Anupam Sibal. Consultant Paediatric Gastroenterologist and Hepatologist, Apollo Centre for Advanced Pediatrics, Indraprastha Apollo Hospital, New Delhi , India

Dramatic developments have taken place in the field of neonatal liver disease in recent times. Newer entities like inborn errors of bile acid biosynthesis have been described and our understanding of other disorders has improved. Alagille syndrome has been linked to the JAG – 1 gene on chromosome 20. Progressive familial intrahepatic cholestasis (PFIC), previously known as Byler syndrome or Byler like disease has been related to mutations in hepatocellular transport system genes involved in bile formation and has been classified into three types. Significant advancements have been made in therapy with the use of newer agents such as NTBC in tyrosinemia type I. Public awareness campaigns have resulted in early referrals ensuring early surgery for biliary atresia with better results. Liver transplantation is now well established and effective gene therapy may soon be available as a therapeutic option. These developments however, have been limited largely to the West.

In the developing world, neonatal liver disease continues to pose several challenges. As the clinical presentations are non-specific, accurate diagnosis requires specific and reliable diagnostic facilities. Such facilities exist in few centres. More importantly, the final outcome in many conditions is determined by early diagnosis and management. In the developing world, sadly, there is a long delay in referrals. A recent consensus conference on neonatal cholestasis (NC) in India brought out the following observations:

• NC constitutes 30% of hepatobiliary disorders in India but yet receives little attention.
• Biliary atresia constitutes a third of all cases of NC.
• There is a long delay by parents in seeking medical attention for these infants (average duration 4.5 weeks).
• Misconceptions of benefit from exposure to sunlight, feeding glucose water and the hope of natural recovery despite worsening of jaundice prevail.
• Lack of trained paramedical staff, inefficient health care chain and doctors unaware of consequences of NC and adopting a wait and watch policy are other contributory factors for the delay.
• Average age at presentation to a specialised centre is 3.5 months. There is thus a delay of 3 months in referral, which eventually deprives these infants of an opportunity of utilising the current available therapeutic modalities.
• The management approach varies considerately in different centres.

• As many as 79% of cases with biliary atresia and 29% of all infants with NC satisfy internationally accepted criteria for liver transplantation.

If our children are to benefit from the dramatic progress made in the West, we need to seriously address specific issues. Overall increase in the level of awareness about baby jaundice in the public is of utmost importance. A simple message needs to be conveyed: "all newborn babies with jaundice beyond 14 days of age need to be seen by a doctor". The availability of successful therapy needs to be highlighted. Early referral to specialist centres needs to be encouraged so that optimum care is offered to children without wastage of time and finances. Uniform management protocols need to be developed. Active collaboration between specialist centres so as to conserve limited resources is crucial. If a concerted effort is made by the medical community, philanthropic organisations and the government, it should be possible to overcome the challenges we face today.