Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.

BACKGROUND: While role of ALDOB-related gene variants for hereditary fructose intolerance is well established, contribution of gene variants for acquired fructose malabsorption (e.g. SLC2A5, GLUT5) is not well understood. METHODS: Patients referred to fructose breath test were further selected to identify those having acquired fructose malabsorption. Molecular analysis of genomic DNA included (I) exclusion of 3 main ALDOB gene variants causing hereditary fructose intolerance and (II) sequencing analysis of SLC2A5 gene comprising complete coding region, at least 20 bp of adjacent intronic regions and 700 bp of proximal promoter. RESULTS: Among 494 patients, 35 individuals with acquired fructose malabsorption were identified based on pathological fructose-breath test and normal lactose-breath test. Thirty four of them (97%) had negative tissue anti-transglutaminase and/or deamidated gliadin antibodies in their medical records. Molecular analysis of SLC2A5 gene of all 35 subjects identified 5 frequent and 5 singular gene variants mostly in noncoding regions (promoter and intron). Allele frequencies of gene variants were similar to those reported in public databases strongly implying that none of them was associated with acquired fructose malabsorption. CONCLUSIONS: Gene variants of coding exons, adjacent intronic regions and proximal promoter region of SLC2A5 gene are unlikely to contribute to genetic predisposition of acquired fructose malabsorption.

CKD prevalence based on real-world data: continuous age-dependent lower reference limits of eGFR with CKD-EPI, FAS and EKFC algorithms.

PURPOSE: Several recent articles discuss the need for a definition of chronic kidney disease (CKD) that embarks age-dependency and its impact on the prevalence of CKD. The relevance is derived from the common knowledge that renal function declines with age. The aim of this study was to calculate age-dependent eGFR lower reference limits and to consider their impact on the prevalence of CKD. METHODS: A real-world data set from patients with inconspicuous urinalysis was used to establish two quantile regression models which were used to calculate continuous age-dependent lower reference limits of CKD-EPI, FAS and EKFC-eGFR based on either single eGFR determinations or eGFR values that are stable over a period of at least 3 months (± 10% eGFR). The derived lower reference limits were used to calculate the prevalence of CKD in a validation data set. Prevalence calculation was done once without and once with application of the chronicity criterion. RESULTS: Both models yielded age-dependent lower reference limits of eGFR that are comparable to previously published data. The model using patients with stable eGFR resulted in higher eGFR reference limits. By applying the chronicity criterion, a lower prevalence of CKD was calculated when compared to one-time eGFR measurements (CKD-EPI: 9.8% vs. 8.3%, FAS: 8.0% vs. 7.2%, EKFC: 9.0% vs. 7.1%). CONCLUSION: The application of age-dependent lower reference intervals of eGFR together with the chronicity criterion result in a lower prevalence of CKD which supports the estimates of recently published work and the idea of introducing age-dependency into the definition of CKD.

Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using Biomarkers.

BACKGROUND: Alcohol consumption is commonly accepted in Western societies and is a known risk factor in pregnancy, which could lead to fetal alcohol spectrum disorders (FASDs). Prevalence of alcohol consumption during pregnancy is mostly unknown. Prevalence estimates in publications based on questionnaires are limited by possible underreporting due to social stigmatization. The aim of this study was to estimate the prevalence of harmful alcohol consumption in a large cohort of pregnant women using different biomarkers related to alcohol consumption and compare the findings with those of non-pregnant women METHODS: Routine parameters known to be influenced by alcohol consumption (γ-glutamyltransferase, GGT; carbohydrate-deficient transferrin, CDT/%CDT; mean corpuscular/cell volume, MCV; combined parameter of GGT and %CDT, GGT-CDT) were analyzed in serum samples of 2,182 pregnant women and 743 non-pregnant, age-matched females. Data were tested for (i) differences between pregnant and non-pregnant women and (ii) changes across the 3 trimesters of pregnancy. RESULTS: Prevalence rates differ greatly according to the parameter and cutoff, which reflects the limitations of assessing alcohol consumption with biomarkers. The prevalence of harmful alcohol consumption on the basis of a single or several elevated parameters was 13.8% (95% CI: 12.4 to 15.2) in pregnant women and 18.6% (95% CI: 15.8 to 21.4) in non-pregnant women, though 85.0% of the elevated measurements were attributable to an isolated elevation in %CDT only. Using GGT-CDT as the parameter with the highest specificity according to the literature, the estimated prevalence of harmful alcohol consumption in pregnancy is 0.5% (95% CI: 0.2 to 0.7). CONCLUSION: Estimated prevalence rates differ greatly with respect to the biomarkers and cutoffs used. The use of CDT/%CDT alone appears to overestimate harmful alcohol consumption during pregnancy.