Aetiological factors in neonatal cholestasis

The aim of the study was to investigate factors of possible importance for the aetiology of neonatal cholestasis. The medical records of 85 cholestatic infants were retrospectively reviewed. The most common diagnoses were extrahepatic biliary atresia (n= 30 patients), α1‐antitrypsin deficiency (n= 11) and progressive familial intrahepatic cholestasis (n= 11). The mothers of the patients with biliary atresia had a higher mean age and were more commonly treated for gestational diabetes than the mothers of patients with intrahepatic neonatal cholestasis. The morbidity and mortality in the siblings of patients with biliary atresia were also greater than expected. There was a seasonal variation of the birth months in the biliary atresia group, possibly indicating an association to viral infections. Signs of ongoing cytomegalovirus infection were more common in both the extrahepatic and the intrahepatic group. Conclusions: Progressive familial intrahepatic cholestasis may be a more common cause of neonatal cholestasis in Sweden than reported elsewhere. A maternal vulnerability, of genetic or other origin, is suggested in the aetiology of biliary atresia. The true pathogenetic importance of cytomegalovirus infection in patients with neonatal cholestasis of different origins remains to be established.