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Diagnóstico de Intolerancia a la Lactosa en Adultos: Rendimiento Comparativo de la Clínica, Test Espiratorio y Test Genético

dc.contributores-ES
dc.creatorRollan, Antonio; Unidad de Gastroenterología, Departamento de Medicina, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.creatorVial, Cecilia; Centro de Genética Humana, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.creatorQuesada, Soledad; Unidad de Gastroenterología, Departamento de Medicina, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.creatorEspinoza, Karena; Centro de Genética Humana, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.creatorHatton, Mary; Centro de Genética Humana, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.creatorPuga, Alonso; Centro de Genómica y Bioinformática. Instituto de Biotecnología. Universidad Mayor, Santiago.
dc.creatorRepetto, Gabriela; Centro de Genética Humana, Facultad de Medicina Clínica Alemana- Universidad del Desarrollo, Santiago
dc.date2012-08-28
dc.date.accessioned2019-11-11T18:27:27Z
dc.date.available2019-11-11T18:27:27Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/1944
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111155
dc.descriptionCOMPARATIVE PERFORMANCE OF SYMPTOMS QUESTIONNAIRE, HYDROGEN TEST AND GENETIC TEST FOR LACTOSE INTOLERANCE   Background: 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 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. es-ES
dc.languagees
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/4980
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5040
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5269
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5270
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5271
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5272
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5273
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5274
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/5275
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/1944/6343
dc.sourceRevista Médica de Chile; Vol. 140, núm. 9 (2012): SEPTIEMBRE 2012es-ES
dc.source0034-9887
dc.subjectGenetic Testing; Lactose Intolerance; Lactose Tolerance Test; Questionnaireses-ES
dc.titleDiagnóstico de Intolerancia a la Lactosa en Adultos: Rendimiento Comparativo de la Clínica, Test Espiratorio y Test Genéticoes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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