Genetic test for lactase non-persistence and hydrogen breath test: Is genotype better than phenotype to diagnose lactose malabsorption?

2009 ◽  
Vol 41 (7) ◽  
pp. 474-479 ◽  
Author(s):  
M. Di Stefano ◽  
V. Terulla ◽  
P. Tana ◽  
S. Mazzocchi ◽  
E. Romero ◽  
...  
2004 ◽  
Vol 144 (6) ◽  
pp. 313-318 ◽  
Author(s):  
Michele Di Stefano ◽  
Antonio Missanelli ◽  
Emanuela Miceli ◽  
Alessandra Strocchi ◽  
Gino Roberto Corazza

2004 ◽  
Vol 92 (2) ◽  
pp. 207-208 ◽  
Author(s):  
Satya Vati Rana ◽  
Deepak Kumar Bhasin ◽  
Virender Kumar Vinayak

The aim of the present prospective study was to detect lactose malabsorption in subjects in northern India infected with Entamoeba histolytica and passing cysts. The study group included forty-one patients with E. histolytica cysts in at least one of three consecutive faecal samples. Lactose malabsorption was detected by a lactose H2 breath test. The results were compared with those of forty controls subjects. Thirty-two of forty-one (78·0%) subjects passing E. histolytica cysts had lactose malabsorbtion compared with seventeen of forty (42·5%) control subjects (P>0·01). In conclusion, the present study shows that lactose malabsorption is significantly more common in individuals infected with E. histolytica and passing cysts compared with control subjects.


2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Dietmar Enko ◽  
Erwin Rezanka ◽  
Robert Stolba ◽  
Gabriele Halwachs-Baumann

The aim of this study was to establish a retrospective evaluation and comparison of the hydrogen/methane (H2/CH4) breath test and genetic test (C/T−13910polymorphism) results in lactose malabsorption testing. In total 263 consecutive patients with suspected lactose malabsorption were included in this study. They underwent the H2/CH4breath test following the ingestion of 50 g lactose and were tested for the C/T−13910polymorphism. In total 51 patients (19.4%) had a C/C−13910genotype, indicating primary lactose malabsorption. Only 19 patients (7.2%) also had a positive H2/CH4breath test. All in all 136 patients (51.69%) had a C/T−13910and 76 patients (28.91%) a T/T−13910genotype, indicating lactase persistence. Four patients (1.5%) with the C/T−13910genotype and one patient (0.4%) with the T/T−13910genotype had a positive H2/CH4breath test result, indicating secondary lactose malabsorption. Cohen's Kappa measuring agreement between the two methods was 0.44. Twenty patients (7.6%) with a positive H2/CH4peak within 60 minutes after lactose ingestion were classified as patients with lactose-dependent small intestinal bacterial overgrowth (SIBO). In conclusion, only moderate agreement between the breath test and the genetic test was shown. Secondary lactose malabsorption as well as preanalytical limitations of the combined H2/CH4breath test procedure can cause discrepant results. This trial is registered with K-42-13.


2006 ◽  
Vol 20 (4) ◽  
pp. 265-268 ◽  
Author(s):  
Mauro Di Camillo ◽  
Vanessa Marinaro ◽  
Fiorenza Argnani ◽  
Tiziana Foglietta ◽  
Piero Vernia

BACKGROUND: The hydrogen breath test (H2BT) is the most widely used procedure in the diagnostic workup of lactose malabsorption and lactose intolerance.AIM: To establish whether a simplified two-or three-sample test may reduce time, costs and staff resources without reducing the sensitivity of the procedure.PATIENTS AND METHODS: Data from 1112 patients (292 men, 820 women) with a positive 4 h, nine-sample H2BT were retrospectively analyzed. Patients were stratified according to the degree of lactose malabsorption, the occurrence and type of symptoms. Loss of sensitivity in the procedure was evaluated taking into account two-sample tests (0 min and 120 min or 0 min and 210 min) or three-sample tests (0 min, 120 min and 180 min or 0 min, 120 min and 210 min).RESULTS: Using a two-sample test (0 min and 120 min or 0 min and 210 min) the false-negative rate was 33.4% and 22.7%, respectively. With a three-sample test (0 min, 120 min and 180 min or 0 min, 120 min or 210 min), lactose malabsorption was diagnosed in 91.2% (1014 of 1112) patients and in 96.1% (1068 of 1112) patients, respectively. Of 594 patients with abdominal symptoms, 158 (26.6%) and 73 (12.2%) would have false-negative results with 0 min and 120 min or 0 min and 210 min two-sample tests, respectively. The three-sample tests, 0 min, 120 min and 180 min or 0 min, 120 min and 210 min, have a false-negative rate of 5.9% and 2.1%, respectively.CONCLUSIONS: A three-sample H2BT is time-and cost-sparing without significant loss of sensitivity for the diagnosis both of lactose malabsorption and lactose intolerance.


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