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PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease. No association between CFTR mutations and pancreatitis was observed. The importance of AAT variants remains speculative.

All 3 cleansing methods showed similar efficacy and tolerability; however, none of them was satisfactory.

BackgroundPeutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence has been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most cases by mutations in the STK11 gene.MethodsThe majority of causative DNA changes identified in patients with PJS are small mutations and, therefore, developing a method of their detection is a key aspect in the advancement of genetic diagnostics of PJS patients. We designed 13 pairs of primers, which amplify at the same temperature and enable examination of all coding exons of the STK11 gene by the HRM analysis.ResultsIn our group of 41 families with PJS small mutations of the STK11 gene were detected in 22 families (54%). In the remaining cases all of the coding exons were sequenced. However, this has not allowed to detect any additional mutations.ConclusionsThe developed methodology is a rapid and cost-effective screening tool for small mutations in PJS patients and makes it possible to detect all the STK11 gene sequence changes occurring in this group.

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Nonalcoholic steatohepatitis (NASH) is the most severe form of non-alcoholic fatty liver disease (NAFLD). The aim of our study was to highlight NASH as a rare but possible problem in children. We present a case of 13-yr-boy with a well-established diagnosis of liver cirrhosis secondary to NASH, who underwent orthotopic liver transplantation (OLT) at the age of 13 years. Six months after transplantation recurrence of NASH in the graft was diagnosed. In the treatment metformin was used with good effect.

Serum NAGL levels are highly elevated in Crohn's disease and ulcerative colitis in children compared to the healthy control group. Systematic studies are needed to explain the role of this protein in the inflammatory bowel disease.