Schirru, Enrico and Corona, Valeria and Usai Satta, Paolo and Scarpa, Maria and Cucca, Francesco and De Virgiliis, Stefano and Rossino, Rossano and Frau, Fulvia and Macis, Maria Doloretta and Jores, Rita-Désirée and Congia, Mauro (2007) Decline of lactase activity and C/T-13910 variant in Sardinian childhood. Journal of Pediatric Gastroenterology and Nutrition, Vol. 45 (4), p. 503-506. eISSN 1536-4801. Article.
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OBJECTIVES: Our study aims to determine the age of onset of adult-type hypolactasia in Sardinians, and to establish the age at which genotyping of the C/T-13910 variant can be used reliably in the diagnosis of lactose malabsorption. PATIENTS AND METHODS: A lactose breath hydrogen test was given to 383 randomly selected patients, from 3 to 19 years old. RESULTS: The C/C-13910 genotype was found in 90% of patients; the frequency of the positive lactose breath hydrogen test increased with age and reached a prevalence of 85% at 9 years. CONCLUSIONS: In Sardinians, adult-type hypolactasia becomes phenotypically evident in all individuals older than 9 years, suggesting that this should be considered the minimum age at which the genetic test for lactase nonpersistence should be applied.
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