Volume 45, Issue 4 pp. 503-506
Short Communications

Decline of Lactase Activity and C/T-13910 Variant in Sardinian Childhood

Enrico Schirru

Corresponding Author

Enrico Schirru

Department of Pediatric Science and Clinical Medicine, Italy

Address correspondence and reprint requests to Enrico Schirru, MBSc, Department of Pediatric Science and Clinical Medicine, University of Cagliari, Via Ospendale n°119, 09100, Cagliari, Sardinia, Italy (e-mail: [email protected]).Search for more papers by this author
Valeria Corona

Valeria Corona

Department of Biomedical Science and Biotechnology, University of Cagliari, Cagliari, Italy

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Paolo Usai-Satta

Paolo Usai-Satta

Department of Gastroenterology Unit, AO G. Brotzu Hospital, Cagliari

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Maria Scarpa

Maria Scarpa

Department of Gastroenterology Unit, AO G. Brotzu Hospital, Cagliari

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Francesco Cucca

Francesco Cucca

Department of Biomedical Science, University of Sassari, Sassari, Italy

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Stefano De Virgiliis

Stefano De Virgiliis

Department of Pediatric Science and Clinical Medicine, Italy

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Rossano Rossino

Rossano Rossino

Department of Pediatric Science and Clinical Medicine, Italy

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Fulvia Frau

Fulvia Frau

Department of Biomedical Science and Biotechnology, University of Cagliari, Cagliari, Italy

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Maria Doloretta Macis

Maria Doloretta Macis

Department of Pediatric Science and Clinical Medicine, Italy

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Rita-Désirée Jores

Rita-Désirée Jores

Department of Biomedical Science and Biotechnology, University of Cagliari, Cagliari, Italy

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Mauro Congia

Mauro Congia

Gastroenterology Unit, Microcitemico Hospital, ASL n°8, Cagliari

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First published: 01 October 2007
Citations: 18

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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