Alpha 1 antitrypsin deficiency predisposes subjects to developing pulmonary emphysema and childhood liver cirrhosis. We have studied restriction fragment length polymorphisms (RFLPs) of the alpha 1 antitrypsin gene in a normal population and a group of patients with pulmonary emphysema. We have identified five RFLPs with eight restriction enzymes. The most frequent polymorphisms have been detec...

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rapidly developing hepatic disease that leads to early childhood cirrhosis and liver failure. We present a diagnostically challenging case of a 20-year-old male with 8 years history of recurrent icteric episodes and constantly normal serum levels of GGT. Genetic study disclosed two novel mutations in gene ABCB11 and liver histopa...

alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be difficult to diagnose. A family assigned as having the PiQO allele by AAT protein quantification an...

Autoimmune hepatitis (AIH) is a chronic disease of unknown aetiology, which usually progresses to cirrhosis if not diagnosed and treated promptly. In childhood, autoimmune hepatitis prevalently presents with non-specific indications. The cause of entrance to hospital of the 9-year-old child was fever for 6 days (39°C) and intense cough, with other clinical symptoms and signs: abdominal distenti...

An Indian origin one and half year old premorbidly normal male child presented with history of gradual distension of abdomen for 6 months and jaundice, generalized body swelling, high coloured urine for 20 days. There was no history of any bleeding or feature suggestive of hepatic encephalopathy. On physical examination child was icteric, pale and had anasarca, massive hepatosplenomegaly and as...

tests which assess distal tubular function (Broberger Winberg, and Zetterstrom, 1960). The disorder may appear at different ages and have variable rates of progression, even within the same family, but it usually takes a rapid course in childhood, while a more protracted course is common in adults (Axelsson and Odlund, 1968). The aetiology of nephronophthisis is obscure. Bacterial infection is ...

Aims Hepatitis B virus (HBV) infections in early childhood are associated with a high risk of chronification and the subsequent risk of cirrhosis and development of hepatocellular carcinoma (HCC) in adulthood. Immunization success rates are still suboptimal and treatment options bare considerable undesired side effects and drug resistance development. As a novel experimental therapeutic approac...

The outcome in 15 children with advanced Indian childhood cirrhosis (ICC) treated with penicillamine 20 mg/kg/day was not significantly different from that in untreated children. Among children admitted to a further double blind trial who had ICC but who had not yet developed jaundice or ascites 10 treated with penicillamine and 10 treated with penicillamine plus prednisolone had a significantl...