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Gastroenterology AND Lactase deficiency [keywords]
- Prevalence and presentation of lactose intolerance and effects on dairy product intake in healthy subjects and patients with irritable bowel syndrome. [Journal Article, Research Support, Non-U.S. Gov't]
- Clin Gastroenterol Hepatol 2013 Mar; 11(3):262-268.e1.
The effects of lactase deficiency on digestive symptoms and diet in patients with irritable bowel syndrome (IBS) have not been well defined. We assessed lactose absorption and tolerance and the intake of dairy products in healthy volunteers (controls) and patients with diarrhea-predominant IBS (D-IBS).Sixty patients diagnosed with D-IBS at the Sir Run Run Shaw Hospital, Hangzhou, China and 60 controls were given hydrogen breath tests to detect malabsorption and intolerance after administration of 10, 20, and 40 g lactose in random order 7-14 days apart; participants and researchers were blinded to the dose. We assessed associations between the results and self-reported lactose intolerance (LI).Malabsorption of 40 g lactose was observed in 93% of controls and 92% of patients with D-IBS. Fewer controls than patients with D-IBS were intolerant to 10 g lactose (3% vs 18%; odds ratio [OR], 6.51; 95% confidence interval [CI], 1.38-30.8; P = .008), 20 g lactose (22% vs 47%; OR, 3.16; 95% CI, 1.43-7.02; P = .004), and 40 g lactose (68% vs 85%; OR, 2.63; 95% CI, 1.08-6.42; P = .03). H(2) excretion was associated with symptom score (P = .001). Patients with D-IBS self-reported LI more frequently than controls (63% vs 22%; OR, 6.25; 95% CI, 2.78-14.0; P < .001) and ate fewer dairy products (P = .040). However, self-reported LI did not correlate with results from hydrogen breath tests.The risk of LI is related to the dose of lactose ingested and intestinal gas production and is increased in patients with D-IBS. Self-reported LI, but not objective results from hydrogen breath tests, was associated with avoidance of dairy products.
- Association between celiac disease and primary lactase deficiency. [Comparative Study, Journal Article]
- Eur J Clin Nutr 2012 Dec; 66(12):1364-5.
Primary lactase deficiency (PLD) is a common inherited condition caused by a reduced activity of lactase. Two single-nucleotide polymorphisms C/T(-13910) and G/A(-22018) upstream of the lactase gene are associated with lactase nonpersistence. In celiac disease (CD) patients, lactose intolerance could be due to secondary lactase deficiency and to PLD. The aim of this study were to evaluate the association of PLD and CD using genetic test, and to define the prevalence of PLD in celiac subjects compared with a control population. A total of 188 controls and 92 biopsy-proven CD patients were included in the study. More than 70% of all subjects were found homozygous for the polymorphisms. Differences in the prevalence of PLD were not found between CD patients and controls.In conclusions, the hereditary lactase deficiency is frequent in Italian CD children as in control population.
- Lactose malabsorption and intolerance: What should be the best clinical management? [Journal Article]
- World J Gastrointest Pharmacol Ther 2012 Jun 6; 3(3):29-33.
Lactose malabsorption (LM) is the incomplete hydrolysis of lactose due to lactase deficiency, which may occur as a primary disorder or secondary to other intestinal diseases. Primary adult-type hypolactasia is an autosomal recessive condition resulting from the physiological decline of lactase activity. Different methods have been used to diagnose LM. Lactose breath test represents the most reliable technique. A recent consensus conference has proposed the more physiological dosage of 25 g of lactose and a standardized procedure for breath testing. Recently a new genetic test, based on C/T13910 polymorphism, has been proposed for the diagnosis of adult-type hypolactasia, complementing the role of breath testing. LM represents a well-known cause of abdominal symptoms although only some lactose malabsorbers are also intolerants. Diagnosing lactose intolerance is not straightforward. Many non-malabsorber subjects diagnose themselves as being lactose intolerant. Blind lactose challenge studies should be recommended to obtain objective results. Besides several studies indicate that subjects with lactose intolerance can ingest up to 15 g of lactose with no or minor symptoms. Therefore a therapeutic strategy consists of a lactose restricted diet avoiding the nutritional disadvantages of reduced calcium and vitamin intake.Various pharmacological options are also available. Unfortunately there is insufficient evidence that these therapies are effective. Further double-blind studies are needed to demonstrate treatment effectiveness in lactose intolerance.
- Diarrhea caused by carbohydrate malabsorption. [Journal Article, Research Support, Non-U.S. Gov't, Review]
- Gastroenterol Clin North Am 2012 Sep; 41(3):611-27.
This article will focus on the role of the colon in the pathogenesis of diarrhea in carbohydrate malabsorption or physiologically incomplete absorption of carbohydrates, and on the most common manifestation of carbohydrate malabsorption, lactose malabsorption. In addition, incomplete fructose absorption, the role of carbohydrate malabsorption in other malabsorptive diseases, and congenital defects that lead to malabsorption will be covered. The article concludes with a section on diagnostic tools to evaluate carbohydrate malabsorption.
- Disaccharidase deficiency in pediatric patients with celiac disease and intact villi. [Journal Article]
- Scand J Gastroenterol 2011 Dec; 46(12):1429-34.
The "gold standard" for the diagnosis of celiac disease (CD) is the small intestinal biopsy. A significant number of biopsies are inadequate for interpretation. Furthermore, the labeling of a biopsy as a Marsh I or II is somewhat subjective and may vary with the experience of the pathologist. Our hypothesis is that patients with intact villi undergoing biopsies frequently have associated disaccharidase deficiencies (DSD).We reviewed 220 charts of pediatric patients with CD and selected those with a duodenal biopsy Marsh score of I/II. The disaccharidase (DS) levels of these patients were compared with a randomly selected, age-matched control group. DSD is defined as levels below the lower limits of normal.Lactase (mean lactase = 18.8 in the control group vs. 4.2 in the diseased group, p = 0.004); sucrase (mean sucrase = 46.4 in the control group vs. 21.4 in the diseased group, p = 0.001); maltase (mean maltase = 138 in the control group vs. 52.5 in the diseased group, p = 0.001); palatinase (mean palatinase = 9.6 in the control group vs. 3.3 in the diseased group, p < 0.001).There is a profound deficiency of DS levels in pediatric patients with CD who have intact villi.
- Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment. [Journal Article, Research Support, Non-U.S. Gov't, Validation Studies]
- Br J Nutr 2010 Sep; 104(6):900-7.
Clinical manifestations of lactase (LCT) deficiency include intestinal and extra-intestinal symptoms. Lactose hydrogen breath test (H2-BT) is considered the gold standard to evaluate LCT deficiency (LD). Recently, the single-nucleotide polymorphism C/T(-13910) has been associated with LD. The objectives of the present study were to evaluate the agreement between genetic testing of LCT C/T(-13910) and lactose H2-BT, and the diagnostic value of extended symptom assessment. Of the 201 patients included in the study, 194 (139 females; mean age 38, range 17-79 years, and 55 males, mean age 38, range 18-68 years) patients with clinical suspicion of LD underwent a 3-4 h H2-BT and genetic testing for LCT C/T(-13910). Patients rated five intestinal and four extra-intestinal symptoms during the H2-BT and then at home for the following 48 h. Declaring H2-BT as the gold standard, the CC(-13910) genotype had a sensitivity of 97% and a specificity of 95% with a κ of 0.9 in diagnosing LCT deficiency. Patients with LD had more intense intestinal symptoms 4 h following the lactose challenge included in the H2-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 min and 4 h after oral lactose challenge. Extra-intestinal symptoms (dizziness, headache and myalgia) and extension of symptom assessment up to 48 h did not consistently show different results. In conclusion, genetic testing has an excellent agreement with the standard lactose H2-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.
- Frequency of lactose malabsorption among healthy southern and northern Indian populations by genetic analysis and lactose hydrogen breath and tolerance tests. [Journal Article, Research Support, Non-U.S. Gov't]
- Am J Clin Nutr 2010 Jan; 91(1):140-6.
Lactose malabsorption (LM), the inability to break down lactose into glucose and galactose, is due to a deficiency in the small intestinal lactase phlorizin hydrolase enzyme. Ethnic and geographic variations of LM are known.The aim of this study was to compare the frequency of LM in healthy southern and northern Indian populations.A total of 153 healthy volunteers (76 from southern and 77 from northern India) were evaluated for LM by using a lactose tolerance test (LTT), a lactose hydrogen breath test (lactose HBT), and polymerase chain reaction-restriction fragment length polymorphism to identify the lactase gene C/T-13910 polymorphism (confirmed by sequencing).Volunteers from southern and northern India were comparable in age and sex. The LTT result was abnormal in 88.2% of southern Indians and in 66.2% of northern Indians (P = 0.001). The lactose HBT result was abnormal in 78.9% of southern Indians and in 57.1% of northern Indians (P = 0.003). The CC genotype was present in 86.8% and 67.5% (P = 0.002), the CT genotype was present in 13.2% and 26.0% (P = 0.036), and the TT genotype was present in 0% and 6.5% (P = 0.03) of southern and northern Indians, respectively. The frequency of symptoms after the lactose load (47.4% compared with 15.6%; P < 0.001) and peak concentrations of breath hydrogen (88.5 +/- 71.9 compared with 55.4 +/- 61.9 ppm; P = 0.003), both of which might indicate the degree of lactase deficiency, were higher in southern than in northern Indians.The frequency and degree of LM is higher in southern than in northern Indian healthy populations because of genetic differences in these populations.
- Disorders of intestinal secretion and absorption. [Journal Article, Review]
- Best Pract Res Clin Gastroenterol 2009; 23(3):395-406.
The gastrointestinal tract possesses a huge epithelial surface area and performs many different tasks. Amongst them are the digestive and absorptive functions. Disorders of intestinal absorption and secretion comprise a variety of different diseases, e.g. coeliac disease, lactase deficiency or Whipple's disease. In principle, impaired small intestinal function can occur with or without morphological alterations of the intestinal mucosa. Therefore, in the work up of a malabsorptive syndrome an early small intestinal biopsy is encouraged in conjunction with breath tests and stool analysis to guide further management. In addition, there is an array of functional tests, the clinical availability of which becomes more and more limited. In any case, early diagnosis of the underlying pathophysiology is most important, in order to initiate proper therapy. In this chapter, diagnostic procedure of malabsorption is discussed with special attention to specific disease like coeliac disease, Whipple's disease, giardiasis and short bowel syndrome. Furthermore, bacterial overgrowth, carbohydrate malabsorption and specific nutrient malabsorption (e.g. for iron or vitamins) and protein-losing enteropathy are presented with obligatory and optional tests as used in the clinical setting.
- Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. [Comparative Study, Journal Article, Research Support, Non-U.S. Gov't]
- Gastroenterology 2009 Jun; 136(7):2295-303.
Congenital lactase deficiency (CLD) is a cause of disaccharide intolerance and malabsorption characterized by watery diarrhea in infants fed breast milk or lactose-containing formulas. The molecular basis of CLD is unknown. Mutations in the coding region of the brush border enzyme lactase phlorizin hydrolase (LPH) were found to cause CLD in a study of 19 Finnish families. We analyzed the effects of one of these mutations, G1363S, on LPH folding, trafficking, and function.We introduced a mutation into the LPH complementary DNA that resulted in the amino acid substitution G1363S. The mutant gene was transiently expressed in COS-1 cells, and the effects were assessed at the protein, structural, and subcellular levels.The mutant protein LPH-G1363S was misfolded and could not exit the endoplasmic reticulum. Interestingly, the mutation creates an additional N-glycosylation site that is characteristic of a temperature-sensitive protein. The intracellular transport and enzymatic activity, but not correct folding, of LPH-G1363S were partially restored by expression at 20 degrees C. However, a form of LPH that contains the mutations G1363S and N1361A, which eliminates the N-glycosylation site, did not restore the features of wild-type LPH. Thus, the additional glycosyl group is not required for the LPH-G1363S defects.This is the first characterization, at the molecular and subcellular levels, of a mutant form of LPH that is involved in the pathogenesis of CLD. Mutant LPH accumulates predominantly in the endoplasmic reticulum but can partially mature at a permissive temperature; these features are unique for a protein involved in a carbohydrate malabsorption defect implicating LPH.