These data suggest that the MURR1 gene and its protein product are unlikely to play a primary role in the pathogenesis of Wilson disease. More extensive studies with larger numbers of clinically homogeneous patients should be carried out to establish whether nucleotide alterations in the MURR1 gene may have a role in causing WD or WD-like disorders or act as modifying factors in the phenotype variability in WD.

Background: It is generally accepted that celiac disease (CD) must always be taken into consideration when dealing with children manifesting growth failure. It is, therefore, important to have laboratory tests capable of detecting patients who should undergo intestinal biopsy. In this study, we have prospectively evaluated clinical characteristics, gliadin antibody measurements and duodenal biopsies in 47 children with short stature and without gastrointestinal symptoms, in order to determine the incidence of CD and the diagnostic value of immunoglobulin (1g)A and IgG antigliadin antibodies (AGA) for CD. Methods: Anthropometric parameters and IgA-and IgG AGA were evaluated in 47 children with short stature. Antigliadin antibodies were measured by enzyme-linked immunosorbent assay (Euroimmun kit). Endoscopic intestinal biopsies were taken from all children. Results: On the basis of intestinal biopsy, 26 (55.3%) patients were found to be probable CD. Sensitivity, specificity, positive predictive (PPV) and negative predictive value (NPV) for IgA AGA was found to be 23, 90, 75 and 48%, respectively. Sensitivity, specificity and PPV for IgG AGA was 100, 0 and 55%, respectively. The NPV for IgG AGA was not determined. Conclusions:The results of our study demonstrated that because of their incomplete sensitivity, specificity, PPV and NPV, intestinal biopsy can not be replaced by these tests.

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These results indicate that zinc deficiency is an important problem in CD children with short stature; however, plasma zinc levels are not useful as a screening test for selecting patients for jejunal biopsy.

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