{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:16:53Z","timestamp":1790295413419,"version":"4.1.0"},"reference-count":23,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2010,4,19]],"date-time":"2010-04-19T00:00:00Z","timestamp":1271635200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Nutr"],"published-print":{"date-parts":[[2010,9,28]]},"abstract":"<jats:p>Clinical manifestations of lactase (LCT) deficiency include intestinal and extra-intestinal symptoms. Lactose hydrogen breath test (H<jats:sub>2<\/jats:sub>-BT) is considered the gold standard to evaluate LCT deficiency (LD). Recently, the single-nucleotide polymorphism C\/T<jats:sub>\u2212\u00a013\u00a0910<\/jats:sub>has been associated with LD. The objectives of the present study were to evaluate the agreement between genetic testing of LCT C\/T<jats:sub>\u2212\u00a013\u00a0910<\/jats:sub>and lactose H<jats:sub>2<\/jats:sub>-BT, and the diagnostic value of extended symptom assessment. Of the 201 patients included in the study, 194 (139 females; mean age 38, range 17\u201379 years, and 55 males, mean age 38, range 18\u201368 years) patients with clinical suspicion of LD underwent a 3\u20134\u00a0h H<jats:sub>2<\/jats:sub>-BT and genetic testing for LCT C\/T<jats:sub>\u2212\u00a013\u00a0910<\/jats:sub>. Patients rated five intestinal and four extra-intestinal symptoms during the H<jats:sub>2<\/jats:sub>-BT and then at home for the following 48\u00a0h. Declaring H<jats:sub>2<\/jats:sub>-BT as the gold standard, the CC<jats:sub>\u2212\u00a013\u00a0910<\/jats:sub>genotype had a sensitivity of 97\u00a0% and a specificity of 95\u00a0% with a \u03ba of 0\u00b79 in diagnosing LCT deficiency. Patients with LD had more intense intestinal symptoms 4\u00a0h following the lactose challenge included in the H<jats:sub>2<\/jats:sub>-BT. We found no difference in the intensity of extra-intestinal symptoms between patients with and without LD. Symptom assessment yielded differences for intestinal symptoms abdominal pain, bloating, borborygmi and diarrhoea between 120\u00a0min and 4\u00a0h after oral lactose challenge. Extra-intestinal symptoms (dizziness, headache and myalgia) and extension of symptom assessment up to 48\u00a0h did not consistently show different results. In conclusion, genetic testing has an excellent agreement with the standard lactose H<jats:sub>2<\/jats:sub>-BT, and it may replace breath testing for the diagnosis of LD. Extended symptom scores and assessment of extra-intestinal symptoms have limited diagnostic value in the evaluation of LD.<\/jats:p>","DOI":"10.1017\/s0007114510001297","type":"journal-article","created":{"date-parts":[[2010,4,19]],"date-time":"2010-04-19T08:53:03Z","timestamp":1271667183000},"page":"900-907","source":"Crossref","is-referenced-by-count":49,"title":["Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom 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