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Adult-type hypolactasia and lactose malabsorption in Poland

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Mądry E., Lisowska A., Kwiecień J., Marciniak R., Korzon-Burakowska A., Drzymała-Czyż S., Mojs E., Walkowiak J.
Acta Biochimica Polonica
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2010
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vol. 57
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issue 4
585-588
EN
Background: The available data on the incidence of lactose malabsorption are contradictory. Potential bias in random selection is a major drawback of studies performed to-date. Moreover, molecular analysis of polymorphism -13910 C>T upstream of the lactase (LCT) gene (NM_005915.4:c.1917+326C>T; rs4988235) has not been reported in those studies. Therefore, in this study we aimed to assess genetic predisposition and clinical manifestation of adult-type hypolactasia (ATH). Patients and methods: In two-hundred randomly chosen healthy subjects (HS) aged from 18 to 20 years, the presence of -13910 C>T polymorphic variants upstream of the LCT gene was assessed. In a subgroup of subjects with genotype predisposing to ATH, hydrogen-methane breath test (BT) with lactose loading was conducted to determine the current state of lactase activity. In addition, clinical symptoms typical for lactose malabsorption were assessed using the questionnaire method. Results: Sixty-three out of 200 (31.5 %) HS had -13910 C/C genotype. Thus, genetically determined lactase persistence is expected in the remaining 137 (68.5 %) subjects. Thirteen out of 53 (24.5 %) HS having -13910 C/C genotype were proved to be lactose intolerant. Recalculating the data for the entire studied population it implies the incidence of lactose malabsorption in 7.7 % of subjects. Only three out of 13 (23.1 %) subjects with abnormal BT results, reported clinical symptoms related to lactose consumption. Conclusions: Significantly lower than previously reported incidence of clinically detectable lactose malabsorption in young healthy adults in Poland has been documented. The -13910 C/C genotype upstream of the LCT gene indicates a predisposition to ATH, but definitely does not define the current ability to tolerate lactose.
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Conflicting results of non-invasive methods for detection of Helicobacter pylori infection in children with celiac disease - a preliminary study

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Józefczuk J., Mądry E., Nowak J., Walkowiak M., Łochocka K., Banasiewicz T., Pławski A., Kwiecień J., Walkowiak J.
Acta Biochimica Polonica
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2016
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vol. 63
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issue 1
127-130
EN
Background: There are no data addressing the usefulness of non-invasive tests for the detection of Helicobacter pylori (HP) infection in celiac disease (CD). Aim: The aim of this study was to compare two most sensitive and specific tests - urea breath test (UBT) and fecal antigen test (FAT) in HP diagnosis in CD patients. Materials and Methods: The study comprised of 76 CD patients, 49 healthy subjects (HS) and 35 patients who underwent differential diagnosis due to abdominal pain (AP patients). The presence of HP infection was evaluated using the 13C isotope-labeled UBT and FAT (ELISA). Results: HP infection was diagnosed based on UBT and FAT in 8 (16.3%) and 7 (14.3%) HS, and in 8 (10.5%) CD patients and 12 (34.3%) AP patients, respectively, using both tests. The prevalence of conflicting results in comparison with positive results (obtained with any of the two tests) was distinctly higher (54.5%) in CD group than in other subjects (23.3%); however, due to low HP prevalence, it did not reach the level of significance (p<0.1759). Conclusion: CD may increase the risk of divergent results of non-invasive tests used for the detection of HP infection in children. Since UBT is the most reliable test, we suggest its standard use as a method of choice in pediatric CD - at least until new evidence emerges supporting a different approach.
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