Genotyping of alpha-antitrypsin in ten Croatian families.

OBJECTIVES: The aims of the study were to determine alpha-antitrypsin (AAT) genotype by a simple DNA-based method and to investigate the association of AAT genotype and serum AAT concentration in a group of ten families. METHODS AND RESULTS: AAT genotype was determined by PCR-RFLP and serum concentration by radial immunodiffusion in samples from each member of ten families (mother, father, and child/children). In the group of parents, five normal genotypes, Pi MM, with a normal serum AAT concentration, and fifteen Pi MZ genotypes, four of them with slightly decreased (43%-66% of the mean) AAT concentration were detected. In the group of children, particular genotypes followed the mode of inheritance. There were eight Pi MZ, three of them with slightly decreased (52%-60% of the mean) AAT concentration, and five Pi ZZ genotypes with considerably decreased (24%-45% of the mean) AAT concentration. CONCLUSIONS: PCR-RFLP is the method of choice for AAT genotyping. AAT concentration is not a reliable biochemical marker of AAT deficiency. Determination of AAT genotype in family studies allows the risk of deficient allele inheritance to be followed up and assessed. Early diagnosis of a deficient AAT genotype contributes to the success of currently widely available AAT replacement therapy.

[Gluten enteropathy in Croatian children is primarily associated with the HLA-DR3-DQ2 haplotype]. / Glutenska enteropatija u hrvatske djece primarno je udruzena s haplotipom HLA-DR3-DQ2.

OBJECTIVES: Coeliac disease (CD) has one of the strongest class II HLA association of any human disease. The goal of this study was to establish the frequency of HLA-DR and DQ antigens, as well as common HLA-DR-DQ haplotypes among CD patients. No similar study has previously been done in Croatian patients. PATIENTS AND CONTROLS: There were 58 biopsy proven patients with CD. The control groups comprised 502 and 118 healthy person for HLA-DR and HLA-DQ typing, respectively. METHODS: The class II HLA-DR and DQ antigens typing were carried out by standard microcytotoxicity assay for B cells. Only antisera to three specificities (DQ1, 2 and 3) were available to us at the time of the study. RESULTS: We confirmed the high frequency of HLA-DR3 (84.48%; RR = 23.7; p < 0.00001) in our patients with CD. As reported in other populations, most of the patients negative for DR3, were heterozygous for DR7 and DR5 (10.34%) or DR4/DR5, DR4/DR6 (3.44%). CD was significantly correlated with the presence of HLA-DQ2 (96.55%, RR = 75.9; p < 0.00001). Correlation with CD was strongly dependent on homozygosity, 15 out of 58 (25.86%) of the patients and 4 (2.87%) of the controls being homozygotes for DQ2 (RR = 11.9; p < 0.00001). The remaining two patients were DR4-DQ3 positive. Among extended haplotypes only DR2-DQ1 was under-represented (RR = 0.3; p < 0.0033). CONCLUSION: The results suggest that in Croatia CD is primarily associated with HLA-DQ2 specificities on the DR3-DQ2 haplotype.

[The HLA-DR phenotype in Croatian children with gluten enteropathy]. / Fenotip HLA-DR u hrvatske djece s glutenskom enteropatijom.

Several studies of HLA and gluten enteropathy (GE) in European countries have found an association between this disease and certain DR phenotypes. However, no studies of DR phenotypes have been published in GE coming from Croatia. Therefore, we have studied HLA-A, B and DR specificities in 94 unrelated children with GE and in a group of healthy controls. In GE there was significant increase in the frequencies of A1 (61.70% v 24.50%; p < 0.0001) and B8 antigen (70.21% v 20.51%; p < 0.0001) compared with controls. The most frequent DR antigen was HLA-DR3 (87.23% v 18.82% in controls) with the relative risk of 29.65. The distribution of DR phenotypes in GE showed that the most frequent one was DR3/other DR (54.26%) and in decreasing order DR3/DR7 (17.02%), DR3/X (15.96%) and DR5/DR7 (8.51%). These phenotypes account for 95.75% of patients studied. A further 3.19% have DR4/DR5 phenotype. However, due to the frequency of certain antigen in controls, only phenotypes DR3/DR7 (relative risk: 28.92), DR3/X (relative risk: 13.29) and DR3/ other DR (relative risk: 10.04) were significantly associated with GE. The present study emphasizes the importance of studying the HLA-DR phenotypes in patients with GE.

Body morphology in adolescent girls with anorexia nervosa: a short-term longitudinal study.

Changes in body morphology of anorectic girls during illness as well as during the treatment period were studied using data on 23 anthropometric traits. The sample consisted of 20 adolescent girls, aged 16.05 +/- 2.21 years. Girls with shorter duration of anorexia nervosa have larger amounts of fat and muscle tissue on the upper arm, as well as thicker subcutaneous fat tissue of the trunk, than the girls with longer duration of illness. These differences remain even after the treatment period. Growth rate of girls with longer duration of illness has been decreased. Slight changes in the latent structure of body morphology in anorectic girls at the end of hospitalisation in comparison with those at the beginning of hospitalisation were observed. The above-mentioned changes could have resulted from greater relative increase of fat than muscular tissue mass during hospitalisation and possible difference in the sequence of fat gain between the trunk and the extremities. Further studies are needed.

Gallstone associated with acute pancreatitis in a child.

The authors report a case of acute pancreatitis and cholelithiasis in a 13-year-old boy. During the clinical course of the disease temporary cholestatic jaundice appeared with pleural effusion and with biochemical relapse after the beginning of oral nutrition. The diagnosis of acute pancreatitis and associated gallstone was established by clinical and laboratory findings. The authors emphasize the diagnostic importance of the plain abdominal film and of elevated renal amylase clearance. As the etiologic diagnosis was clear, cholecystectomy was postponed until the laboratory findings proved the recovery of the patient.