Browsing by Author "Topić, Aleksandra (14018793900)"

Introduction Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder.; Objective Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence.; Methods Objectives of the study were analyzed on a sample of eight children (four male and four female, aged 63 months (mean14.81±23.96 months; range 1-63 months) with AATD confirmed based on its low serum value and pathological phenotype.; Results Of the total of eight patients, six manifested cholestasis syndrome (three male and three female, mean age 2.25±1.37 months; range 1-4.5 months), while two patients, a 3.5-year-old girl and a 5.25-year-old boy, were without symptoms and clinical-laboratory signs of the disease, disclosed during family testing. Serum alpha-1-antitrypsin level rated 0.30-0.66 g/L (0.37±0.12), among which seven were with ZZ phenotype 0.30-0.39 (0.33±0.04), and in a boy with FZ the phenotype was disclosed on family screening, 0.66 g/L. In the group of patients with cholestasis syndrome (serum GTT 444.80±203.15 U/L; range 201-676 U/L), three had mild to moderate hepatomegaly, one had longitudinal growth delay (

Background. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods. Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results. ESRD patients had significantly higher ferritin and hepcidin-25 (<0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin ≥9.32 ng/mL, ferritin ≥48.2 μg/L, transferrin saturation ≥16.8%, and MCV ≥81 fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p = 0 005, partial eta squared = 0 09; p = 0 027, partial eta squared = 0 06, respectively) was found. Serum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p = 0 002, partial eta squared = 0 07). Conclusion. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients. Copyright © 2019 Violeta Dopsaj et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Background. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods. Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results. ESRD patients had significantly higher ferritin and hepcidin-25 (<0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin ≥9.32 ng/mL, ferritin ≥48.2 μg/L, transferrin saturation ≥16.8%, and MCV ≥81 fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p = 0 005, partial eta squared = 0 09; p = 0 027, partial eta squared = 0 06, respectively) was found. Serum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p = 0 002, partial eta squared = 0 07). Conclusion. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients. Copyright © 2019 Violeta Dopsaj et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.