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. 2007 Oct;45(4):503-6.
doi: 10.1097/MPG.0b013e31805b5899.

Decline of lactase activity and c/t-13910 variant in Sardinian childhood

Enrico Schirru  1 , Valeria Corona, Paolo Usai-Satta, Maria Scarpa, Francesco Cucca, Stefano De Virgiliis, Rossano Rossino, Fulvia Frau, Maria Doloretta Macis, Rita-Désirée Jores, Mauro Congia
Affiliations

Decline of lactase activity and c/t-13910 variant in Sardinian childhood

Enrico Schirru et al. J Pediatr Gastroenterol Nutr. 2007 Oct.

Abstract

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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