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1.
BMC Gastroenterol ; 24(1): 143, 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38654193

RESUMO

BACKGROUND: Food malabsorption and intolerance is implicated in gastrointestinal symptoms among patients with irritable bowel syndrome (IBS). Key triggers include fructose and fructan. Prior studies examined fructose and fructan malabsorption separately in IBS patients. None have concurrently assessed both within the same patient group. We aimed to investigate the association between fructose and fructan malabsorption in the same patients with IBS using hydrogen breath testing (HBT). METHODS: We retrospectively identified patients with IBS who underwent fructose and fructan HBTs and abstracted their results from the electronic medical record. Fructose and fructan HBTs were performed by administering a 25 g fructose solution or 10 g fructan solution, followed by breath hydrogen readings every 30 min for 3 h. Patients were positive for fructose or fructan malabsorption if breath hydrogen levels exceeded 20 ppm. RESULTS: Of 186 IBS patients, 71 (38.2%) were positive for fructose malabsorption and 91 (48.9%) were positive for fructan malabsorption. Of these patients, 42 (22.6%) were positive for fructose malabsorption and fructan malabsorption. Positive fructose HBT readings were significantly associated with positive fructan HBT readings (p = 0.0283). Patients positive for fructose malabsorption or fructan malabsorption had 1.951 times higher odds of testing positive for the other carbohydrate. CONCLUSIONS: Our results reveal a clinically significant association between fructose malabsorption and fructan malabsorption in patients with IBS. Fructan malabsorption should be assessed in patients with fructose malabsorption, and vice versa. Further studies are required to identify the mechanisms underlying our findings.


Assuntos
Testes Respiratórios , Frutanos , Frutose , Síndrome do Intestino Irritável , Síndromes de Malabsorção , Humanos , Síndrome do Intestino Irritável/metabolismo , Síndrome do Intestino Irritável/complicações , Frutose/metabolismo , Feminino , Masculino , Estudos Retrospectivos , Síndromes de Malabsorção/metabolismo , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/complicações , Frutanos/metabolismo , Adulto , Pessoa de Meia-Idade , Hidrogênio/análise , Hidrogênio/metabolismo
2.
J Clin Gastroenterol ; 57(5): 451-458, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36867517

RESUMO

BACKGROUND AND AIM: A clear relationship of biological indexes between bile acid malabsorption (BAM) and diarrhea-predominant irritable bowel syndrome (IBS-D) has not been well analyzed. This meta-analysis aimed to establish a more convenient method to diagnose BAM in IBS-D patients by comparing the differences in biomarkers between IBS-D patients and healthy people. METHODS: Multiple databases were searched for relevant case-control studies. Indicators used to diagnose BAM included 75 Se-homocholic acid taurine (SeHCAT), 7α-hydroxy-4-cholesten-3-one(C4), fibroblast growth factor-19 and 48-hour fecal bile acid (48FBA). The rate of BAM (SeHCAT) was calculated by using a random-effect model. The levels of C4, FGF19, and 48FBA were compared, and the overall effect size was combined by a fixed effect model. RESULTS: The search strategy identified 10 relevant studies comprising 1034 IBS-D patients and 232 healthy volunteers. The pooled rate of BAM in IBS-D patients was 32% (according to SeHCAT; 95% CI: 24%-40%). The level of C4 in IBS-D patients was significantly higher than that in the control group (2.86 ng/mL; 95% CI: 1.09, 4.63); The level of FGF19 was significantly lower than that in the control group (-33.97 pg/mL; 95% CI: -51.13, -16.82); The level of 48FBA was significantly higher than that in the control group (0.059; 95% CI: 0.41, 0.77). CONCLUSIONS: The results mainly concluded serum C4 and FGF19 levels in IBS-D patients. Most of the studies have different normal cutoff points of serum C4 and FGF19 levels; the performance of each test should be further estimated. By comparing the levels of these biomarkers, BAM in patients with IBS-D could be identified more accurately, which would lead to more effective treatment.


Assuntos
Síndrome do Intestino Irritável , Síndromes de Malabsorção , Humanos , Síndrome do Intestino Irritável/diagnóstico , Diarreia/etiologia , Ácidos e Sais Biliares , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/etiologia , Biomarcadores
3.
Curr Gastroenterol Rep ; 25(6): 134-139, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37199899

RESUMO

PURPOSE OF REVIEW: Disaccharidase deficiency in adults causes carbohydrate malabsorption, resulting in symptoms which significantly overlap with irritable bowel syndrome (IBS). This article discusses the diagnosis and treatment of disaccharidase deficiency within the context of recent literature. RECENT FINDINGS: Disaccharidase deficiency in adults is more common than previously thought, which includes lactase, sucrase, maltase and isomaltase enzymes. Deficiency in disaccharidases, which are produced by the intestinal brush border, will interfere with the breakdown and absorption of carbohydrates and may result in abdominal pain, gas, bloating and diarrhea. Patients deficient in all 4 disaccharidases are known as having "pan-disaccharidase" deficiency, which has a distinct phenotype with more reported weight loss than patients deficient in one enzyme. IBS patients who do not respond to low FODMAP dietary restriction may have undiagnosed disaccharidase deficiency and may benefit from testing. Diagnostic testing methods are limited to duodenal biopsies, which is the gold standard, and breath testing. Dietary restriction and enzyme replacement therapy have been shown to be effective treatments in these patients. Disaccharidase deficiency is an underdiagnosed condition in adults with chronic GI symptoms. Patients who do not respond to traditional treatment strategies for DBGI may benefit from testing for disaccharidase deficiency. Further studies delineating the distinctions between disaccharidase deficient patients and those with other motility disorders are needed.


Assuntos
Síndrome do Intestino Irritável , Síndromes de Malabsorção , Humanos , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/terapia , Dissacaridases/metabolismo , Sacarase/metabolismo , Diarreia
4.
Br J Nutr ; 127(4): 481-489, 2022 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-33818329

RESUMO

This review intends to act as an overview of fructose malabsorption (FM) and its role in the aetiology of diseases including, but not limited to, irritable bowel syndrome (IBS) and infantile colic and the relationship between fructose absorption and the propagation of some cancers. IBS results in a variety of symptoms including stomach pains, cramps and bloating. Patients can be categorised into two groups, depending on whether the patients' experiences either constipation (IBS-C) or diarrhoea (IBS-D). FM has been proposed as a potential cause of IBS-D and other diseases, such as infantile colic. However, our knowledge of FM is limited by our understanding of the biochemistry related to the absorption of fructose in the small intestine and FM's relationship with small intestinal bacterial overgrowth. It is important to consider the dietary effects on FM and most importantly, the quantity of excess free fructose consumed. The diagnosis of FM is difficult and often requires indirect means that may result in false positives. Current treatments of FM include dietary intervention, such as low fermentable oligo-, di-, monosaccharides and polyols diets and enzymatic treatments, such as the use of xylose isomerase. More research is needed to accurately diagnose and effectively treat FM. This review is designed with the goal of providing a detailed outline of the issues regarding the causes, diagnosis and treatment of FM.


Assuntos
Cólica , Síndrome do Intestino Irritável , Síndromes de Malabsorção , Testes Respiratórios , Cólica/complicações , Frutose , Humanos , Síndrome do Intestino Irritável/diagnóstico , Síndrome do Intestino Irritável/etiologia , Síndrome do Intestino Irritável/terapia , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/terapia
5.
Dig Dis Sci ; 67(6): 2517-2525, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34365537

RESUMO

BACKGROUND: Chronic diarrhea in patients with neuroendocrine tumors (NET) may be caused by bioactive products of NET, bile acid malabsorption (BAM), ileal resection (IR) or steatorrhea. AIM: To quantitate BA and fat malabsorption in NET with diarrhea. METHODS: Part of evaluation in medical oncology clinical practice, 67 patients [42F, 25 M; median age 64.0 y (17.0 IQR)] with well-differentiated NET and diarrhea underwent clinically indicated measurements of 48-h fecal BA [(FBA), fecal weight (normal < 400 g/48 h), fecal fat (normal < 7 g/day) in n = 52] and fasting serum 7αC4 (marker of hepatic BA synthesis, n = 30) between 01/2018 and 11/2020. IR had been performed in 45 patients. BAM diagnosis was based on FBA criteria: elevated total FBA (> 2337 µmol/48 h) or > 10% primary FBA or combination > 4% primary FBA plus > 1000 µmol total FBA/48 h. We also measured fecal elastase (for pancreatic insufficiency) in 13 patients. RESULTS: BAM was present in 48/52 (92%) patients with NET. There were significant correlations between total FBA and 48-h fecal weight (Rs = 0.645, P < 0.001). Mean length of IR was 47 cm; in patients with IR < 25 cm, total FBA was elevated in 85% and primary FBA > 10% in 69%. In 22 patients with no IR, 13/15 tested (87%) had BAM. Among 6 patients with pancreatic NET and no IR, 80% had BAM. Fecal fat was ≥ 15 g/day in 18/42 (43%). In 4/17 (24%) with IR < 25 cm and 8/19 (42%) patients with IR > 25 cm fecal fat was 44.0 (40.5) and 38.0 (38.0)g/day, respectively. CONCLUSION: A majority of patients with NET and diarrhea had BAM, even with < 25 cm or no IR.


Assuntos
Síndromes de Malabsorção , Tumores Neuroendócrinos , Esteatorreia , Ácidos e Sais Biliares , Diarreia/etiologia , Diarreia/patologia , Fezes , Humanos , Síndromes de Malabsorção/complicações , Síndromes de Malabsorção/etiologia , Pessoa de Meia-Idade , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/cirurgia , Esteatorreia/complicações , Esteatorreia/patologia
6.
Prenat Diagn ; 42(1): 136-140, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34816459

RESUMO

BACKGROUNDS: Microvillus inclusion disease (MVID) characterizes as intractable life-threatening watery diarrhea malnutrition after birth. MATERIALS & METHODS: Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to reveal the underlying causes. The mutations were verified by Sanger sequencing and quantitative polymerase chain reaction. RESULTS: Exome sequencing revealed that both of the patients carrying MYO5B compound heterozygote mutations that were inherited from their parents. CONCLUSION: Here we describe two cases with MVID caused by MYO5B deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis.


Assuntos
Síndromes de Malabsorção/etiologia , Microvilosidades/patologia , Mucolipidoses/etiologia , Cadeias Pesadas de Miosina/deficiência , Miosina Tipo V/deficiência , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Síndromes de Malabsorção/genética , Masculino , Microvilosidades/genética , Mucolipidoses/genética , Mutação/genética , Cadeias Pesadas de Miosina/genética , Miosina Tipo V/genética , Teste Pré-Natal não Invasivo/métodos , Ultrassonografia Pré-Natal/métodos , Sequenciamento do Exoma/métodos
7.
J Assoc Physicians India ; 70(4): 11-12, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35443489

RESUMO

Among the causes of malabsorption, tropical sprue is one of the leading cause.Several reports indicating that celiac disease, now being recognised more frequently. MATERIAL: 94 patients, aged more than 12 years, presenting with Chronic diarrhoea and malabsorption syndrome were analyzed by clinical presentation, endoscopic and histopathological examination.The spectrum of disease in these patients and features differentiating celiac disease and tropical sprue are reported here. OBSERVATION: Most common cause was Celiac Disease (65%), followed by Tropical Sprue (21%), common variable immunodeficiency (2%), lymphangiectasia (1%), idiopathic (3%). Patients with celiac disease were younger,having anemia, scalloping of folds,moderate or severe villous atrophy, crypt hyperplasia, diffuse epithelial damage. Patients with tropical sprue were older and more often normal duodenal epithelium. CONCLUSION: Malabsorption, a disease which is often missed and not recognised by clinicians. A meticulous search for diagnosis is required.


Assuntos
Doença Celíaca , Síndromes de Malabsorção , Espru Tropical , Doença Celíaca/diagnóstico , Duodeno/patologia , Humanos , Índia/epidemiologia , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/patologia , Espru Tropical/complicações , Espru Tropical/diagnóstico , Espru Tropical/patologia
8.
Gastroenterology ; 159(4): 1390-1405.e20, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32534933

RESUMO

BACKGROUND & AIM: Myosin VB (MYO5B) is an essential trafficking protein for membrane recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the congenital diarrheal disease, microvillus inclusion disease (MVID). MYO5B deficiency in mice causes mislocalization of SGLT1 and NHE3, but retained apical function of CFTR, resulting in malabsorption and secretory diarrhea. Activation of lysophosphatidic acid (LPA) receptors can improve diarrhea, but the effect of LPA on MVID symptoms is unclear. We investigated whether LPA administration can reduce the epithelial deficits in MYO5B-knockout mice. METHODS: Studies were conducted with tamoxifen-induced, intestine-specific knockout of MYO5B (VilCreERT2;Myo5bflox/flox) and littermate controls. Mice were given LPA, an LPAR2 agonist (GRI977143), or vehicle for 4 days after a single injection of tamoxifen. Apical SGLT1 and CFTR activities were measured in Üssing chambers. Intestinal tissues were collected, and localization of membrane transporters was evaluated by immunofluorescence analysis in tissue sections and enteroids. RNA sequencing and enrichment analysis were performed with isolated jejunal epithelial cells. RESULTS: Daily administration of LPA reduced villus blunting, frequency of multivesicular bodies, and levels of cathepsins in intestinal tissues of MYO5B-knockout mice compared with vehicle administration. LPA partially restored the brush border height and the localization of SGLT1 and NHE3 in small intestine of MYO5B-knockout mice and enteroids. The SGLT1-dependent short-circuit current was increased and abnormal CFTR activities were decreased in jejunum from MYO5B-knockout mice given LPA compared with vehicle. CONCLUSIONS: LPA may regulate a MYO5B-independent trafficking mechanism and brush border maturation, and therefore be developed for treatment of MVID.


Assuntos
Lisofosfolipídeos/uso terapêutico , Síndromes de Malabsorção/tratamento farmacológico , Síndromes de Malabsorção/patologia , Microvilosidades/patologia , Mucolipidoses/tratamento farmacológico , Mucolipidoses/patologia , Miosina Tipo V/deficiência , Transportador 1 de Glucose-Sódio/metabolismo , Animais , Modelos Animais de Doenças , Enterócitos/patologia , Síndromes de Malabsorção/etiologia , Camundongos , Camundongos Knockout , Mucolipidoses/etiologia
9.
J Pediatr Gastroenterol Nutr ; 72(1): e1-e3, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32804910

RESUMO

ABSTRACT: Fructose is a highly abundant carbohydrate in western diet and may induce bowel symptoms in children as in adults. The main objective of this study is to describe the frequency of fructose malabsorption (FM) in symptomatic patients 18 years or younger undergoing fructose breath test in a single tertiary center between 2013 and 2018, and to evaluate whether certain symptoms are related to positivity of the test. Out of 273 tests 183 (67%) were compatible with FM. The most frequent pretest symptom in the overall study population was bloating (83%), followed by abdominal pain (73%). Patients with positive test were younger than those with a negative test (median 5 vs 8 years, P < 0.001). In multivariate analysis, which included age, sex, and symptoms (diarrhea, abdominal pain, bloating, nausea), only age <6 years (odds ratio 2.93, 95% confidence interval 1.64-5.23) and absence of nausea (odds ratio = 3.32, 95% confidence interval 1.56-7.05) were associated with FM.


Assuntos
Intolerância à Frutose , Síndromes de Malabsorção , Dor Abdominal , Adulto , Testes Respiratórios , Criança , Chile/epidemiologia , Frutose/efeitos adversos , Intolerância à Frutose/diagnóstico , Intolerância à Frutose/epidemiologia , Humanos , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/epidemiologia , Síndromes de Malabsorção/etiologia , Centros de Atenção Terciária
10.
Clin Immunol ; 212: 108362, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32058070

RESUMO

A number of gastrointestinal complications occur in common variable immunodeficiency (CVID). Infections are one cause, but various forms of severe non-infectious enteropathy also lead to substantial morbidity. The presence of T cell lymphocytic infiltrates in the mucosa have suggested that vedolizumab, a humanized monoclonal antibody which binds to alpha4 beta7 integrin and inhibits the migration of effector T-lymphocytes into gastrointestinal tissues, would be an effective treatment. A previous report of 3 CVID cases suggested benefit in 2 subjects. In this study 7 CVID patients with severe enteropathy were treated with vedolizumab. Four of the 7 completed vedolizumab induction therapy but 3 subjects had acute decompensation during induction and treatment was stopped. While one subject showed improvement, 6 of the 7 patients were withdrawn from therapy. While vedolizumab may be of use in some CVID subjects, it was not ultimately found helpful in most of these patients.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Imunodeficiência de Variável Comum/imunologia , Fármacos Gastrointestinais/uso terapêutico , Enteropatias/tratamento farmacológico , Adulto , Idoso , Imunodeficiência de Variável Comum/complicações , Feminino , Humanos , Inflamação , Enteropatias/etiologia , Enteropatias/imunologia , Enteropatias/patologia , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/terapia , Masculino , Desnutrição/etiologia , Desnutrição/terapia , Pessoa de Meia-Idade , Nutrição Parenteral , Falha de Tratamento
11.
Br J Nutr ; 123(10): 1081-1093, 2020 05 28.
Artigo em Inglês | MEDLINE | ID: mdl-32037990

RESUMO

Foamy, whitish appearance of the pyloric caeca, reflecting elevated lipid content, histologically visible as hypervacuolation, is frequently observed in Atlantic salmon fed high-plant diets. Lipid malabsorption syndrome (LMS) is suggested as term for the phenomenon. Earlier studies have shown that insufficient supply of phospholipids may cause similar symptoms. The objective of the present study was to strengthen knowledge on the role of choline, the key component of phosphatidylcholine, in development of LMS as well as finding the dietary required choline level in Atlantic salmon. A regression design was chosen to be able to estimate the dietary requirement level of choline, if found essential for the prevention of LMS. Atlantic salmon (456 g) were fed diets supplemented with 0, 392, 785, 1177, 1569, 1962, 2354, 2746 and 3139 mg/kg choline chloride. Fish fed the lowest-choline diet had pyloric caeca with whitish foamy surface, elevated relative weight, and the enterocytes were hypervacuolated. These characteristics diminished with increasing choline level and levelled off at levels of 2850, 3593 and 2310 mg/kg, respectively. The concomitant alterations in expression of genes related to phosphatidylcholine synthesis, cholesterol biosynthesis, lipid transport and storage confirmed the importance of choline in lipid turnover in the intestine and ability to prevent LMS. Based on the observations of the present study, the lowest level of choline which prevents LMS and intestinal lipid hypervacuolation in post-smolt Atlantic salmon is 3·4 g/kg. However, the optimal level most likely depends on the feed intake and dietary lipid level.


Assuntos
Ração Animal/análise , Colina/administração & dosagem , Gorduras na Dieta/administração & dosagem , Enterócitos/metabolismo , Salmo salar/metabolismo , Animais , Ceco/metabolismo , Suplementos Nutricionais , Metabolismo dos Lipídeos , Lipídeos/análise , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/prevenção & controle , Necessidades Nutricionais , Água do Mar
12.
Curr Gastroenterol Rep ; 22(7): 33, 2020 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-32500383

RESUMO

PURPOSE OF REVIEW: To evaluate recently published information about the frequency of maldigestion and malabsorption in older individuals, likely diagnoses causing these problems, and the diagnostic scheme when these diagnoses are being considered. RECENT FINDINGS: Although the prevalence of malnourishment and frank malnutrition may be increasing among older adults admitted to the hospital, this appears to be due to reduced food intake rather than maldigestion or malabsorption. The mechanisms of food digestion and absorption seem to be resilient, even in old age, but concurrent illness may produce malabsorption in older individuals. Illnesses that may be more common among the elderly include small intestinal bacterial overgrowth, exocrine pancreatic insufficiency, enteropathies, vascular disease, diabetes, and certain infections, such as Whipple's disease. In addition, older adults may have had previous surgeries or exposure to medicines which may induce malabsorption. The presentation of maldigestion and malabsorption in the elderly may be different than in younger individuals, and this may contribute to delayed recognition, diagnosis, and treatment. Diagnostic testing for maldigestion and malabsorption generally is similar to that used in younger patients. Maldigestion and malabsorption occur in older individuals and require a high level of suspicion, especially when weight loss, sarcopenia, or nutrient deficiencies are present.


Assuntos
Síndromes de Malabsorção , Desnutrição , Idoso , Ácidos e Sais Biliares/deficiência , Ácidos e Sais Biliares/metabolismo , Síndrome da Alça Cega/diagnóstico , Síndrome da Alça Cega/etiologia , Complicações do Diabetes/diagnóstico , Complicações do Diabetes/etiologia , Diarreia/diagnóstico , Diarreia/etiologia , Dissacarídeos/deficiência , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/etiologia , Gastroenteropatias/diagnóstico , Gastroenteropatias/etiologia , Humanos , Enteropatias/diagnóstico , Enteropatias/etiologia , Intestino Delgado/fisiopatologia , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/etiologia , Desnutrição/diagnóstico , Desnutrição/etiologia , Esteatorreia/diagnóstico , Esteatorreia/etiologia
13.
Gut ; 68(11): 2080-2091, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31427404

RESUMO

Lactose is the main source of calories in milk, an essential nutriedigestion, patients with visceral hypersensitivity nt in infancy and a key part of the diet in populations that maintain the ability to digest this disaccharide in adulthood. Lactase deficiency (LD) is the failure to express the enzyme that hydrolyses lactose into galactose and glucose in the small intestine. The genetic mechanism of lactase persistence in adult Caucasians is mediated by a single C→T nucleotide polymorphism at the LCTbo -13'910 locus on chromosome-2. Lactose malabsorption (LM) refers to any cause of failure to digest and/or absorb lactose in the small intestine. This includes primary genetic and also secondary LD due to infection or other conditions that affect the mucosal integrity of the small bowel. Lactose intolerance (LI) is defined as the onset of abdominal symptoms such as abdominal pain, bloating and diarrhoea after lactose ingestion by an individual with LM. The likelihood of LI depends on the lactose dose, lactase expression and the intestinal microbiome. Independent of lactose digestion, patients with visceral hypersensitivity associated with anxiety or the Irritable Bowel Syndrome (IBS) are at increased risk of the condition. Diagnostic investigations available to diagnose LM and LI include genetic, endoscopic and physiological tests. The association between self-reported LI, objective findings and clinical outcome of dietary intervention is variable. Treatment of LI can include low-lactose diet, lactase supplementation and, potentially, colonic adaptation by prebiotics. The clinical outcome of these treatments is modest, because lactose is just one of a number of poorly absorbed carbohydrates which can cause symptoms by similar mechanisms.


Assuntos
Intolerância à Lactose/diagnóstico , Intolerância à Lactose/terapia , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/terapia , Humanos , Intolerância à Lactose/etiologia , Síndromes de Malabsorção/etiologia
14.
Curr Opin Nephrol Hypertens ; 28(4): 352-359, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31145706

RESUMO

PURPOSE OF REVIEW: Enteric hyperoxaluria is commonly observed in malabsorptive conditions including Roux en Y gastric bypass (RYGB) and inflammatory bowel diseases (IBD). Its incidence is increasing secondary to an increased prevalence of both disorders. In this review, we summarize the evidence linking the gut microbiota to the risk of enteric hyperoxaluria. RECENT FINDINGS: In enteric hyperoxaluria, fat malabsorption leads to increased binding of calcium to free fatty acids resulting in more soluble oxalate in the intestinal lumen. Bile acids and free fatty acids in the lumen also cause increased gut permeability allowing more passive absorption of oxalate. In recent years, there is more interest in the role of the gut microbiota in modulating urinary oxalate excretion in enteric hyperoxaluria, stemming from our knowledge that microbiota in the intestines can degrade oxalate. Oxalobacter formigenes reduced urinary oxalate in animal models of RYGB. The contribution of other oxalate-degrading organisms and the microbiota community to the pathophysiology of enteric hyperoxaluria are also currently under investigation. SUMMARY: Gut microbiota might play a role in modulating the risk of enteric hyperoxaluria through oxalate degradation and bile acid metabolism. O. formigenes is a promising therapeutic target in this population; however, further studies in humans are needed to test its effectiveness.


Assuntos
Antibacterianos/efeitos adversos , Microbioma Gastrointestinal/fisiologia , Hiperoxalúria/etiologia , Síndromes de Malabsorção/etiologia , Animais , Ácidos e Sais Biliares/metabolismo , Derivação Gástrica , Humanos , Oxalatos/metabolismo , Oxalobacter formigenes/fisiologia
15.
J Pediatr Gastroenterol Nutr ; 69(1): 39-44, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31232884

RESUMO

OBJECTIVES: A correlation between autism spectrum disorders (ASDs) and gastrointestinal (GI) problems, and a possible link between gluten consumption and ASD have been increasingly reported. Gluten/casein-free diet (GCFD) is often undertaken, with conflicting results. This study aimed at evaluating the distribution of human leukocyte antigen (HLA)-DQ2/DQ8 typing among patients with ASD with GI symptoms, together with its correlation with duodenal histology and response to GCFD. METHODS: Between 2002 and 2015 all patients with ASD with GI symptoms referred to our outpatient clinic, displaying clinical, laboratory, or ultrasound findings suggestive of organic disease, underwent endoscopy, celiac disease (CD) serum antibodies testing and HLA-DQ2/DQ8 genotyping. Patients were prescribed a 6-month GCFD, and then clinically reassessed. RESULTS: Among 151 enrolled patients, 134 (89%) were negative for CD-specific antibodies; 72 (48%) were positive for HLA-DQ2/DQ8; and 56 (37%) showed duodenal microscopic inflammation. Clinical improvement was observed in non-CD patients irrespective of the rigorous or partial adherence to the diet, being the difference nonstatistically significant. Response to diet was related to the presence of histological duodenal alterations at baseline (odds ratio 11.323, 95% confidence interval 1.386-92.549 for Marsh 2 pattern), but not to HLA-DQ2/DQ8 positivity (odds ratio 1.120, 95% confidence interval 0.462-2.716). CONCLUSIONS: Our data suggest that children with ASD with GI symptoms have a high prevalence of duodenal intraepithelial lymphocytic infiltration, which seems to be linked to a mechanism other than autoimmune response to gluten consumption. Alteration of duodenal histology, but not the HLA-DQ2/DQ8 status, was associated with clinical response to the diet.


Assuntos
Transtorno do Espectro Autista/genética , Duodenite/dietoterapia , Duodenite/genética , Duodeno/patologia , Dor Abdominal/etiologia , Adolescente , Transtorno do Espectro Autista/complicações , Caseínas/administração & dosagem , Doença Celíaca/dietoterapia , Doença Celíaca/genética , Criança , Pré-Escolar , Constipação Intestinal/etiologia , Dieta Livre de Glúten , Duodenite/complicações , Duodenite/patologia , Feminino , Genótipo , Antígenos HLA-DQ/genética , Humanos , Síndromes de Malabsorção/etiologia , Masculino
16.
J Pediatr Gastroenterol Nutr ; 68(6): 854-860, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30889125

RESUMO

OBJECTIVES: Among the 3 lines of pancreatic enzymes, amylase secretion develops last and it is not detected in duodenal aspirates of infants in the first month after birth. The aim of this study was to assess the prevalence and symptoms of isolated amylase deficiency in children. METHODS: During a 6-year period, we performed endoscopic pancreatic function tests (ePFT) in 712 children. Isolated amylase deficiency was defined as activity that was below the third percentile of our referenced population with normal lipase and protease activities. RESULTS: Seventy-two children between age 0.21 and 15.7 years (boys, n = 35) had isolated amylase deficiency. The highest prevalence of isolated amylase deficiency was found in patients less than 6 months of age (52.9%). From 6 months to 1 year of age, the prevalence was 40%. The prevalence gradually decreased until 18 months. Failure to thrive, poor weight gain, diarrhea, and abdominal bloating were the most frequent indications for ePFT. Eleven children had repeat ePFT after initial diagnosis and 6 had normal enzyme activity, whereas 5 had remained amylase-deficient an average of 1.65 years later. CONCLUSIONS: The prevalence of selective amylase deficiency was 10.1% in the 712 children who underwent ePFT with the suspicion of malabsorption. Low amylase activity is "physiologic" in infants <6 months of age, however, this study supports that it should be considered in the differential diagnosis in children older than 6 months of age.


Assuntos
Amilases/deficiência , Pancreatopatias/epidemiologia , Dor Abdominal/diagnóstico , Dor Abdominal/epidemiologia , Dor Abdominal/etiologia , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Diarreia/diagnóstico , Diarreia/epidemiologia , Diarreia/etiologia , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/epidemiologia , Insuficiência de Crescimento/etiologia , Feminino , Humanos , Lactente , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/epidemiologia , Síndromes de Malabsorção/etiologia , Masculino , Pancreatopatias/complicações , Pancreatopatias/diagnóstico , Testes de Função Pancreática , Prevalência , Estudos Retrospectivos
17.
Semin Respir Crit Care Med ; 40(6): 775-791, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31659726

RESUMO

Optimal nutrition support has been integral in the management of cystic fibrosis (CF) since the disease was initially described. Nutritional status has a clear relationship with disease outcomes, and malnutrition in CF is typically a result of chronic negative energy balance secondary to malabsorption. As the mechanisms underlying the pathology of CF and its implications on nutrient absorption and energy expenditure have been elucidated, nutrition support has become increasingly sophisticated. Comprehensive nutrition monitoring and treatment guidelines from professional and advocacy organizations have unified the approach to nutrition optimization around the world. Newborn screening allows for early nutrition intervention and improvement in short- and long-term growth and other clinical outcomes. The nutrition support goal in CF care includes achieving optimal nutritional status to support growth and pubertal development in children, maintenance of optimal nutritional status in adult life, and optimizing fat soluble vitamin and essential fatty acid status. The mainstay of this approach is a high calorie, high-fat diet, exceeding age, and sex energy intake recommendations for healthy individuals. For patients with exocrine pancreatic insufficiency, enzyme replacement therapy is required to improve fat and calorie absorption. Enzyme dosing varies by age and dietary fat intake. Multiple potential impediments to absorption, including decreased motility, altered gut luminal bile salt and microbiota composition, and enteric inflammation must be considered. Fat soluble vitamin supplementation is required in patients with pancreatic insufficiency. In this report, nutrition support across the age and disease spectrum is discussed, with a focus on the relationships among nutritional status, growth, and disease outcomes.


Assuntos
Fibrose Cística/fisiopatologia , Estado Nutricional , Apoio Nutricional/métodos , Adulto , Criança , Fibrose Cística/complicações , Fibrose Cística/terapia , Progressão da Doença , Ingestão de Energia , Terapia de Reposição de Enzimas , Insuficiência Pancreática Exócrina/etiologia , Insuficiência Pancreática Exócrina/fisiopatologia , Humanos , Recém-Nascido , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/fisiopatologia , Desnutrição/etiologia , Desnutrição/fisiopatologia , Triagem Neonatal , Risco
18.
Digestion ; 99(2): 140-147, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30179874

RESUMO

BACKGROUND: Fructose malabsorption is commonly diagnosed by the hydrogen fructose (H2) breath test. However, the mechanisms behind fructose malabsorption in humans are not well understood and the clinical relevance of this test is considered controversial. Hence, the main aim of this study is to evaluate the predictive value of the H2 breath test. METHODS: Regarding exclusion criteria, the study enrolled 562 consecutive patients, enlisted to a gastroenterology clinic between 2009 and 2011 for testing malabsorption. In the final data analysis, 246 patients were included. Ecotrophologists used 3 categories to rate dietary success: complete response, partial response and no response to the diet. They also rated the occurrence of abdominal pain, diarrhoea and bloating during the H2 breath test. Ordinal regression analysis using SPSS was performed to evaluate whether H2 breath test results - measured as the maximum H2 level, the maximum increase in H2, and the area under the curve (AUC) - predicted dietary success or failure. Correlation analyses were applied to test whether symptoms of fructose malabsorption correlated with the H2 breath test measures. Finally, we evaluated whether cut-off-values of 40 or 60 parts per million (ppm) serve better than the test measure of 20 ppm to diagnose fructose malabsorption. RESULTS: When a fructose-free diet was administered it was found that 103 patients (41.9%) were complete responders, 116 (47.2%) were partial responders and 27 (11%) were non-responders. The H2 breath test with the 20 ppm cut-off-value, that is, the maximum H2 level, the maximum increase in H2, and the AUC did not predict dietary response (all 95% CI ns). This was also the case when using 40 or 60 ppm as cut-off-values (all 95% CI ns). Abdominal pain during the test correlated significantly with the AUC. Diarrhoea and bloating correlated significantly with the AUC, the maximum H2 level and the maximum increase in H2 (p < 0.05). CONCLUSIONS: The H2 breath test produced no predictive value for the fructose-free diet outcomes; its value as a predictive test is therefore questionable. However, the symptoms of fructose malabsorption correlated significantly with the H2 breath test measures, and this is an indication that there is at least a degree of validity of the H2 breath test beyond the simple detection or exclusion of fructose malabsorption.


Assuntos
Frutose/efeitos adversos , Hidrogênio/análise , Síndromes de Malabsorção/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Testes Respiratórios/métodos , Criança , Feminino , Frutose/metabolismo , Humanos , Mucosa Intestinal/metabolismo , Síndromes de Malabsorção/dietoterapia , Síndromes de Malabsorção/etiologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
19.
Dig Dis Sci ; 64(6): 1599-1603, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30730014

RESUMO

BACKGROUND: Teduglutide, a glucagon-like peptide 2 analog, has demonstrated efficacy in treating adult patients with short bowel syndrome (SBS) and dependence on parenteral nutrition (PN), but its role in chronic malabsorptive states that do not necessitate PN remains uncertain. AIMS: To evaluate teduglutide use beyond its approved indications and to discuss the results of this adjunctive treatment in patients resistant to established therapy. RESULTS: This series reports four patients treated with teduglutide off-label. The first case had Crohn's disease (CD) with persistent colocutaneous fistulae that demonstrated complete closure after 8 months of teduglutide therapy. The second case involved a PN-dependent CD patient with persistent fistulae and intra-abdominal abscesses who weaned off PN and had a significant improvement in her nutritional status after 3 months of teduglutide therapy. The third case had CD complicated by severe malnutrition and previous PN-associated line infections, but by 9 months of teduglutide therapy, she gained 5 kg and no longer required re-initiation of PN. The fourth case had a high-output diverting ileostomy with resultant impaired healing of a stage IV decubitus ulcer, and after 2 months of therapy, the patient's pre-albumin increased by 250% and the ulcer had decreased by 40% in size. CONCLUSION: The use of teduglutide might be broadened to include patients with functional SBS not meeting strict criteria for intestinal failure. Further studies should evaluate the efficacy of teduglutide in patients who may require short-term small intestine rehabilitation or who have chronically impaired absorptive capacity not yet requiring PN.


Assuntos
Fármacos Gastrointestinais/uso terapêutico , Absorção Intestinal/efeitos dos fármacos , Síndromes de Malabsorção/tratamento farmacológico , Uso Off-Label , Peptídeos/uso terapêutico , Adulto , Idoso , Doença Crônica , Feminino , Humanos , Síndromes de Malabsorção/etiologia , Síndromes de Malabsorção/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estado Nutricional/efeitos dos fármacos , Fatores de Risco , Resultado do Tratamento , Aumento de Peso/efeitos dos fármacos
20.
Clin Exp Dermatol ; 44(3): 283-289, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30144136

RESUMO

BACKGROUND: Bariatric surgery (BS) represents the most effective treatment for morbid obesity and its related complications, potentially ameliorating chronic comorbid inflammatory skin conditions, such as psoriasis and hidradenitis suppurativa (HS). Weight-loss interventions are strongly encouraged in patients with HS, but the resulting effect on the course of the disease has been poorly reported. AIM: To describe the effect of BS-associated weight-loss on the course of HS. METHODS: This was a retrospective, descriptive study of a hospital-based patient cohort with HS in order to investigate the relationship between exposure to a BS procedure and the HS disease course. Clinical characteristics and BS-related outcomes were retrospectively analysed by chart review for identified cases. Laboratory parameters for selected micronutrients (levels of vitamin A, D and B12, plus zinc and iron) were re-evaluated at a follow-up visit in each post-BS case. Typical patients with HS from the general cohort served as controls for the comparison of vitamin D and zinc serum levels. RESULTS: Of 178 patients with HS, 12 patients with incident HS who had undergone a BS procedure were identified. A subset of patients (n = 10) developed initial signs and symptoms of cutaneous suppuration after experiencing weight loss related to malabsorptive bariatric procedures. Post-BS patients with HS presented multiple micronutritional deficiencies and insufficient responses to standard, first-line antibiotic treatments. Of the micronutrients we selected for analysis, zinc was found to be at significantly lower serum levels in post-BS patients with HS compared with typical patients with HS. CONCLUSIONS: Post-BS HS may represent a new patient subset, requiring customized clinical management.


Assuntos
Cirurgia Bariátrica/efeitos adversos , Hidradenite Supurativa/etiologia , Síndromes de Malabsorção/etiologia , Zinco/sangue , Adulto , Feminino , Hidradenite Supurativa/sangue , Hidradenite Supurativa/epidemiologia , Humanos , Incidência , Síndromes de Malabsorção/sangue , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/sangue , Obesidade Mórbida/complicações , Obesidade Mórbida/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
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