Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético

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dc.contributor.authorRollan, Antonio
dc.contributor.authorVial, Cecilia
dc.contributor.authorQuesada, Soledad
dc.contributor.authorEspinoza, Karena
dc.contributor.authorHatton, Mary
dc.contributor.authorPuga, Alonso
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2017-05-29T16:24:49Z
dc.date.available2017-05-29T16:24:49Z
dc.date.issued2012
dc.descriptionCentro de Genética y Genómica
dc.description.abstractBackground: Genetically programmed adult-type hypolactasia affects 56% of Chilean population. Ideally, diagnosis should be confirmed. Aim: To compare diagnostic yield of genetic test, hydrogen (H2) expiratory test and a validated symptomatic structured survey (SS). Material and Methods: Patients submitted to H2 test answered a historic (anamnestic) and current SS (after the ingestion of 25 g of lactose). A blood sample was obtained for determination of genetic polymorphisms C/T_13910, C/G_13907 and G/A_22018 by polymerase chain reaction. The gold standard for diagnosis of lactose intolerance (LI) was the agreement of at least two of three tests. Results: Sixty-one participants aged 39 ± 12 years (21 males), were studied. Anamnestic SS was diagnostic of LI in all cases (score > 7), while current SS detected LI in 27/61 (46%). H2 test (an increase > 15 ppm after ingestion of 25 g of lactose) showed LI in 31/61 (51%). The locus C/G_13907 showed no polymorphism and locus G/A_22018 was in complete linkage disequilibrium with C/T_13910. Genotype C/C_13910, associated to hypolactasia, was present in 30/58 (52%). According to the gold-standard, 32/61 (52.5%) patients were diagnosed as LI. Sensitivity and specificity were, respectively, 79% and 69% for current SS, 93% and 93% for H2 test and 97% and 93% for the genetic test. The last two showed a positive likelihood ratio (LR) > 10 and a negative LR < 0.1, figures within the range considered clinically useful. Conclusions: Genotype C/C_13910 is responsible for hypolactasia in this population. Anamnestic report of symptoms after milk ingestion and symptoms after lactose ingestion, are not accurate enough. H2 and genetic tests are simple and similarly accurate to diagnose lactose intolerance in adults.
dc.format.extent8
dc.identifier.citationRev Med Chile 2012; 140: 1101-1108
dc.identifier.urihttp://hdl.handle.net/11447/1355
dc.identifier.urihttp://dx.doi.org/10.4067/S0034-98872012000900001
dc.language.isospa
dc.publisherSociedad Medica de Santiago
dc.subjectGenetic testing
dc.subjectlactose intolerance
dc.subjectlactose tolerance test
dc.subjectquestionnaires
dc.titleDiagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético
dc.title.alternativeComparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance
dc.typeArtículo

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