Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children

Alliende, Francisco; Vial, Cecilia; Espinoza, Karen Claros; Schnettle, Daniela; Romero, Victoria; Miquel, Isabel; Arancibia, María Eugenia; Ríos, Gloria; Rodríguez, Lorena; Quesada, Soledad; Lucero, Yalda; Repetto, Gabriela M.

doi:10.1097/mpg.0000000000001208

Cited by 7 publications

(16 citation statements)

References 26 publications

(59 reference statements)

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“…in older children. 8 However, despite the ease of obtaining samples (blood sample and even oral mucosa tissue), its use could be limited In a recent publication, this genotype has been described as an "intermediate" one, as higher levels of H 2 than in TT homozygous patients were found, 21 which is consistent with the trend we show in our study.…”

Section: Discussionsupporting

confidence: 90%

“…In our study, we found a good agreement between genetic and breath test, with values similar to those reported by Alliende et al. in older children . However, despite the ease of obtaining samples (blood sample and even oral mucosa tissue), its use could be limited by economic costs.…”

Section: Discussionsupporting

confidence: 90%

“…24 In our study, although 80% of patients were methane producers, measurement of this gas did not increase the number of patients classified as malabsorbers, and in other recent studies its measurement had only a marginal impact. 8,11 However, it is important to consider that each study uses different methane cutoff points to classify a patient as malabsorber.…”

Section: Discussionmentioning

confidence: 99%

“…LCT variant C>T ‐13,910 is the most studied single nucleotide polymorphism. This test has a sensitivity of 80% and a specificity of 65% to identify current lactase malabsorber children …”

Section: Introductionmentioning

confidence: 99%

“…This test has a sensitivity of 80% and a specificity of 65% to identify current lactase malabsorber children. 8 Enzymatic determination of lactase activity (considered in initial studies as the gold standard) is performed in small bowel biopsy samples. 9 In recent years, the rapid determination of enzymatic activity of lactase by a semi-quantitative method has also been performed in endoscopically obtained duodenal biopsies.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Concordance between Lactose Quick Test, hydrogen‐methane breath test and genotyping for the diagnosis of lactose malabsorption in children

Rojo

Jaime

Azócar

et al. 2017

Neurogastroenterology Motil

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

“…LCT variant C>T ‐13,910 is the most studied single nucleotide polymorphism. This test has a sensitivity of 80% and a specificity of 65% to identify current lactase malabsorber children …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Concordance between Lactose Quick Test, hydrogen‐methane breath test and genotyping for the diagnosis of lactose malabsorption in children

Rojo

Jaime

Azócar

et al. 2017

Neurogastroenterology Motil

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Fructose Malabsorption in Chilean Children Undergoing Fructose Breath Test at a Tertiary Hospital

Alliende

Lucero²,

Jaime³

et al. 2020

J. pediatr. gastroenterol. nutr.

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Fructose is a highly abundant carbohydrate in western diet and may induce bowel symptoms in children as in adults. The main objective of this study is to describe the frequency of fructose malabsorption (FM) in symptomatic patients 18 years or younger undergoing fructose breath test in a single tertiary center between 2013 and 2018, and to evaluate whether certain symptoms are related to positivity of the test. Out of 273 tests 183 (67%) were compatible with FM. The most frequent pretest symptom in the overall study population was bloating (83%), followed by abdominal pain (73%). Patients with positive test were younger than those with a negative test (median 5 vs 8 years, P < 0.001). In multivariate analysis, which included age, sex, and symptoms (diarrhea, abdominal pain, bloating, nausea), only age <6 years (odds ratio 2.93, 95% confidence interval 1.64–5.23) and absence of nausea (odds ratio = 3.32, 95% confidence interval 1.56–7.05) were associated with FM.

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13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children

et al. 2019

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Background: Primary lactose intolerance (PLI) is a gradual decrease of lactase activity that usually manifests at the age of 1-5 years. It has been proved that PLI is related to a single-nucleotide polymorphism of the lactase (LCT) gene. Objective: An evaluation was performed on the usefulness of genetic tests in detecting LCT 13910C>T and 22018G>A polymorphisms in diagnosing lactose intolerance in children. Methods: The study group included 99 children aged from 2 months to 16.5 years with different digestive tract symptoms. In all patients a hydrogen breath test (HBT) was conducted and blood samples were collected to determine LCT polymorphisms. PLI was defined as the presence of the 13910CC and/or 22018GG polymorphism in patients with a positive HBT result. Results: In the group younger than 6 years, no statistically significant correlation was observed between the 13910CC and/or 22018GG LCT polymorphisms and HBT result. In the group of children older than 6, a statistically significant correlation between the 13910CC (p ¼ 0.0011) and 22018GG (p ¼ 0.003) LCT polymorphisms and HBT result was detected. Conclusions: In children older than 6, the result of genetic testing based on LCT 13910C>T and 22018G>A polymorphisms may diagnose lactose intolerance.

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Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children

Abstract: GT results were significantly concordant with BT results for hypolactasia detection in Chilean children, particularly in those of age 6 years and older.

Cited by 7 publications

References 26 publications

Concordance between Lactose Quick Test, hydrogen‐methane breath test and genotyping for the diagnosis of lactose malabsorption in children

Concordance between Lactose Quick Test, hydrogen‐methane breath test and genotyping for the diagnosis of lactose malabsorption in children

Fructose Malabsorption in Chilean Children Undergoing Fructose Breath Test at a Tertiary Hospital

13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children

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