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BACKGROUND: Fat malabsorption in children with cystic fibrosis (CF) leads to poor nutritional status and altered colonic microbiota. This study aimed at establishing the faecal lipid profile in children with CF, and exploring associations between the faecal lipidome and microbiota. METHODS: Cross-sectional observational study with children with CF and an age-matched control group. Faecal lipidome was analysed by UHLC-HRMS and microbiota profiling by 16S rRNA amplicon sequencing. RESULTS: Among 234 identified lipid species, five lipidome clusters (LC) were obtained with significant differences in triacylglycerols (TG), diacylglycerols (DG), monoacylglycerols (MG) and fatty-acids (FA): LC1 subjects with good digestion and absorption: low TG and low MG and FA; LC2 good digestion and poor absorption: low TG and high MG and FA; LC3 Mild digestion and poor absorption: intermediate TG and high MG and FA; LC4 poor digestion and absorption: high TG and high MG and FA; LC5 outliers. Bacteroidota and Verrucomicrobiota decreased over LC1-LC4, while Proteobacteria increased. Nutritional status indicators were significantly higher in LC1 and decreased over LC2-LC4. CONCLUSION: Assessing faecal lipidome may be relevant to determine how dietary lipids are digested and absorbed. This new evidence might be a method to support targeted nutritional interventions towards reverting fat maldigestion or malabsorption. IMPACT: Lipidomic analysis enabled the identification of the lipid species related to maldigestion (triglycerides) or malabsorption (monoglycerides and fatty acids). Children with cystic fibrosis can be grouped depending on the faecal lipidome profile related to dietary fat maldigestion or malabsorption. The lipidome profile in faeces is related to the composition of microbiota and nutritional status indicators.
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BACKGROUND: Children with cystic fibrosis (CF) present with gut dysbiosis, and current evidence impedes robust recommendations on the use of prebiotics. This study aimed at establishing the prebiotic potential of a commercial beta-glucan on the in vitro colonic microbiota of a child with CF compared to a healthy counterpart (H). METHODS: A dynamic simulator of colonic fermentation (twin-SHIME® model) was set up including the simulation of the proximal (PC) and distal colon (DC) of the CF and the H subjects by colonizing the bioreactors with faecal microbiota. During two weeks the system was supplied with the beta-glucan. At baseline, during treatment and post-treatment, microbiota composition was profiled by 16 S rRNA and short-chain fatty acids (SCFA) production was determined by GS-MS. RESULTS: At baseline, Faecalibacterium, was higher in CF' DC than in the H, along higher Acidaminococcus and less Megasphaera and Sutterella. Beta-glucan supplementation induced increased microbiota richness and diversity in both subjects during the treatment. At genus level, Pseudomonas and Veillonella decreased, while Akkermansia and Faecalibacterium increased significantly in CF. CONCLUSION: The supplementation with beta-glucan suggests positive results on CF colonic microbiota in the in vitro context, encouraging further research in the in vivo setting. IMPACT: Current evidence supports assessing the effect of prebiotics on modifying cystic fibrosis microbiota. The effect of beta-glucan supplementation was evaluated in a controlled dynamic in vitro colonic ecosystem. Beta-glucan supplement improved diversity in cystic fibrosis colonic microbiota. The treatment showed increased abundance of Faecalibacterium and Akkermansia in cystic fibrosis. New evidence supports the use of prebiotics in future clinical studies.
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A 15-year-old boy was admitted to the hospital due to ataxia, drowsiness and bradypsychia. He was known to have a short bowel syndrome Initial venous blood gases revealed a metabolic acidosis with a high anion gap of 24 mmol/L and normal L-lactate. He improved with fasting and fluids and was discharged with oral metronidazole. 2 weeks later he was admitted again with similar symptoms. A specific study of D-Lactic acidosis was carried out, confirming the diagnosis. D-lactic acidosis is an uncommon complication of short bowel syndrome. It occurs as a consequence of the metabolism of unabsorbed carbohydrates. The symptoms are mainly neurological. Limiting the dietary carbohydrates is useful to avoid recurrences. Poorly absorbable antibiotics are used but with varying results. Surgery may be an option if medical treatment fails. Probiotics might be useful to avoid symthoms recurrence.
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Acidose Láctica , Encefalopatias , Síndrome do Intestino Curto , Masculino , Humanos , Adolescente , Acidose Láctica/complicações , Acidose Láctica/diagnóstico , Síndrome do Intestino Curto/complicações , Síndrome do Intestino Curto/terapia , Encefalopatias/complicações , Encefalopatias/tratamento farmacológico , Antibacterianos/uso terapêutico , Carboidratos da DietaRESUMO
Evaluating the usefulness of intestinal anti-transglutaminase IgA (anti-TG2 IgA) deposits detection as a complementary or decision-supporting tool in the diagnosis of celiac disease (CD) in patients with low degree of enteropathy. Small intestinal biopsies (SIB) were performed from 2008 to 2017 in patients on suspicion of CD (positive CD serology and/or symptoms) referred to our Pediatric Gastroenterology Unit. We determined anti-TG2 IgA deposits by using double immunofluorescence in all the patients in whom Marsh 0 or Marsh 1 was detected in the conventional histological study and in a random selection of patients with clearly positive serology and histological Marsh 2-3 lesion. Seventy-five pediatric patients were split into three groups according to the final diagnosis: (i) 13 children with a Marsh 0 or 1, negative CD serology and final non-CD diagnosis; none presented intestinal anti-TG2 IgA deposits; (ii) 15 potential CD cases (Marsh 0 or 1 and CD-associated antibodies), detecting anti-TG2 IgA deposits in 12; on follow-up, another biopsy performed in 11/15 showed villi atrophy in seven and a Marsh 2 lesion in two of them, patients being finally diagnosed as CD cases; and (iii) 47 children with Marsh 2-3 histological lesion and final CD diagnosis; all of them had intestinal anti-TG2 IgA deposits. Anti-TG2 deposits are a useful complementary tool for CD diagnosis in pediatric population with digestive pathologies suggestive of CD. It is especially helpful in those with low-grade lesion, in which anti-TG2 deposits are predictive of the development of more severe lesions on follow-up.
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Doença Celíaca , Autoanticorpos , Biópsia , Criança , Proteínas de Ligação ao GTP , Humanos , Imunoglobulina A , Mucosa Intestinal , Proteína 2 Glutamina gama-Glutamiltransferase , TransglutaminasesRESUMO
BACKGROUND: Despite treatment with pancreatic enzyme replacement therapy (PERT), patients with cystic fibrosis (CF) can still suffer from fat malabsorption. A cause could be low intestinal pH disabling PERT. The aim of this study was to assess the association between faecal pH (as intestinal pH surrogate) and coefficient of fat absorption (CFA). Additionally, faecal free fatty acids (FFAs) were quantified to determine the amount of digested, but unabsorbed fat. METHODS: In a 24-h pilot study, CF patients followed a standardised diet with fixed PERT doses, corresponding to theoretical optimal doses determined by an in vitro digestion model. Study variables were faecal pH, fat and FFA excretion, CFA and transit time. Linear mixed regression models were applied to explore associations. RESULTS: In 43 patients, median (1st, 3rd quartile) faecal pH and CFA were 6.1% (5.8, 6.4) and 90% (84, 94), and they were positively associated (p < 0.001). An inverse relationship was found between faecal pH and total fat excretion (p < 0.01), as well as total FFA (p = 0.048). Higher faecal pH was associated with longer intestinal transit time (p = 0.049) and the use of proton pump inhibitors (p = 0.009). CONCLUSIONS: Although the clinical significance of faecal pH is not fully defined, its usefulness as a surrogate biomarker for intestinal pH should be further explored. IMPACT: Faecal pH is a physiological parameter that may be related to intestinal pH and may provide important physiopathological information on CF-related pancreatic insufficiency. Faecal pH is correlated with fat absorption, and this may explain why pancreatic enzyme replacement therapy is not effective in all patients with malabsorption related to CF. Use of proton pump inhibitors is associated to higher values of faecal pH. Faecal pH could be used as a surrogate biomarker to routinely monitor the efficacy of pancreatic enzyme replacement therapy in clinical practice. Strategies to increase intestinal pH in children with cystic fibrosis should be targeted.
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Fibrose Cística/complicações , Gorduras na Dieta/metabolismo , Terapia de Reposição de Enzimas , Insuficiência Pancreática Exócrina/dietoterapia , Fezes/química , Absorção Intestinal , Pâncreas/enzimologia , Adolescente , Criança , Terapia Combinada , Fibrose Cística/diagnóstico , Fibrose Cística/enzimologia , Terapia de Reposição de Enzimas/efeitos adversos , Europa (Continente) , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/enzimologia , Insuficiência Pancreática Exócrina/etiologia , Feminino , Humanos , Concentração de Íons de Hidrogênio , Masculino , Projetos Piloto , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: In celiac disease (CD) there is a need for precise and non-invasive tools to assess dietary compliance to the gluten-free diet (GFD). Our aim is to evaluate the efficacy of the detection of gluten immunogenic peptides (GIP) in feces, to monitor in real life, the adherence to GFD in pediatric patients with CD. METHODS: A cross-sectional, prospective study was conducted. Fecal samples from CD children were analyzed by a rapid immunochromatographic (IC) test and by an ELISA method, both based on the antigliadin 33-mer monoclonal antibody. RESULTS: Group 1 comprises 43 children on a GFD. According to the food records (FR), 39/43 patients were compliant with the GFD and gluten consumption was recorded in 4. GIP were detected in 15/43 individuals by the ELISA method and also in 7 by IC strips. Group 2: comprise 18 children at CD diagnosis; GIP levels decreased over time (p < 0.001) in a non-linear way (p = 0.028) after starting a GFD and were below the detection limit on the third day in most individuals. CONCLUSION: GIP were detected, both by ELISA and by IC strips, in CD patients on a GFD, in which no consumption of gluten had been registered on the FR, confirming GIP detection to be superior to FR discovering involuntary transgressions. Despite a positive correlation between the amount of gluten intake and the concentration of GIP in feces, the interindividual variations observed suggest gastrointestinal factors influencing GIP recovery need to be further investigated.
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Doença Celíaca , Dieta Livre de Glúten , Criança , Estudos Transversais , Fezes , Glutens , Humanos , Cooperação do Paciente , Peptídeos , Estudos ProspectivosRESUMO
Small bowel biopsy (SBB) is not always helpful to establish celiac disease diagnosis. Hence we have conducted a retrospective study to know the amount of SBB in our center that was not optimal for this purpose. Histological findings were not appropriate for diagnosis in 3.56% (34 out of 955). The main problem encountered was inadequate sample cutting, although this could be solved by a new recut in almost 30% of cases.
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Doença Celíaca/diagnóstico , Adolescente , Biópsia/estatística & dados numéricos , Doença Celíaca/patologia , Criança , Pré-Escolar , Barreiras de Comunicação , Procedimentos Cirúrgicos do Sistema Digestório/estatística & dados numéricos , Feminino , Humanos , Lactente , Recém-Nascido , Mucosa Intestinal/patologia , Intestino Delgado/patologia , Masculino , Equipe de Assistência ao Paciente , Valor Preditivo dos Testes , Estudos RetrospectivosRESUMO
BACKGROUND: there are no effective methods to easily control the correct adherence to a gluten-free diet (GFD) in celiac disease (CD) patients. AIM: to assess the sensitivity and specificity of a rapid immunochromatographic (IC) test that detects gluten immunogenic peptides (GIP) in feces, compared to an enzyme-linked immunosorbent assay (ELISA) method. METHODS: fecal samples from healthy infants were analyzed by a rapid IC test and ELISA, both methods are based on the anti-gliadin 33-mer monoclonal antibody. Group 1 included infants aged from 6 to 24 months, with an unrestricted consumption of gluten containing cereals. Group 2 (negative controls) was comprised of infants aged from 0 to 6 months, either breastfed or formula fed who had never ingested gluten. RESULTS: in group 1 (n = 34), all infants had positive values by ELISA, the mean was 13.13 µgGIP/g (range 0.56-46.79). The IC test was negative in 5/20 cases and there was a significant correlation (p=0.006) between the mean daily gluten intake and GIP in feces. In group 2 (n = 20), all the samples were negative by both methods. Moreover, the Kappa Fleiss concordance index (Kappa = 0.79 CI95% [0.616, 0.965]) indicated a moderate concordance between both methods. CONCLUSIONS: according to our results, both methods are highly specific. However, the ELISA test had a higher sensitivity. Although we found a significant correlation between the amount of gluten consumed and GIP recovery in feces, further studies are needed to clarify the impact of individual confounding factors in GIP recovery.
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Fezes/química , Glutens/análise , Imunoensaio/métodos , Anticorpos Monoclonais , Aleitamento Materno , Dieta Livre de Glúten , Grão Comestível/química , Ensaio de Imunoadsorção Enzimática , Feminino , Gliadina/imunologia , Glutens/administração & dosagem , Glutens/imunologia , Humanos , Lactente , Fórmulas Infantis , Recém-Nascido , Masculino , Sensibilidade e EspecificidadeRESUMO
OBJECTIVES: Pancreatic enzyme replacement therapy (PERT) remains a backbone in the nutritional treatment of cystic fibrosis. Currently, there is a lack of an evidence-based tool that allows dose adjustment. To date, no studies have found an association between PERT dose and fat absorption. Therefore, the aim of the study was to assess the influence of both the PERT dose and the variability in this dose on the coefficient of fat absorption (CFA). METHODS: This is a retrospective longitudinal study of 16 pediatric patients (192 food records) with three consecutive visits to the hospital over a twelve-month period. Dietary fat intake and PERT were assessed via a four-day food record and fat content in stools was determined by means of a three-day stool sample collection. A beta regression model was built to explain the association between the CFA and the interaction between the PERT dose (lipase units [LU]/g dietary fat) and the variability in the PERT dose (standard deviation [SD]). RESULTS: The coefficient of fat absorption increased with the PERT dose when the variability in the dose was low. In contrast, even at the highest PERT dose values, the CFA decreased when the variability was high. The confidence interval suggested an association, although the analysis was not statistically significant. CONCLUSION: The variability in the PERT dose adjustment should be taken into consideration when performing studies on PERT efficiency. A clinical goal should be the maintenance of a constant PERT dose rather than trying to obtain an optimal value.
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Fibrose Cística/tratamento farmacológico , Gorduras na Dieta/metabolismo , Terapia de Reposição de Enzimas/métodos , Adolescente , Algoritmos , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Humanos , Absorção Intestinal , Estudos Longitudinais , Masculino , Pâncreas/enzimologia , Estudos RetrospectivosRESUMO
OBJECTIVE: Intestinal inflammation with contradictory data on faecal calprotectin (fCP) levels is documented in patients with cystic fibrosis (CF). The aim of this study was to longitudinally evaluate fCP in a cohort of children with CF and their relationship with clinical variables. DESIGN: Prospective observational study to assess evolution of fCP levels, primary aimed at improving fat absorption. Along 1.5 years of follow-up (November 2016-May 2018) with four study visits pertaining to a pilot study (two of four) and to a clinical trial (two of four), the study outcomes were measured. SETTING: Six European CF centres in the context of MyCyFAPP Project. SUBJECTS: Children with CF and pancreatic insufficiency (2-18 years old). MAIN OUTCOME MEASUREMENTS: fCP levels, pulmonary function (percentage of forced expiratory volume in 1 s (FEV1%)) and coefficient of fat absorption (CFA). Additionally, in the last two visits, gastrointestinal (GI) symptoms were evaluated through the PedsQL-GI Questionnaire. Linear mixed regression models were applied to assess association between fCP and FEV1, CFA and GI symptoms. RESULTS: Twenty-nine children with CF and pancreatic insufficiency were included. fCP levels were inversely associated with total modified specific PedsQL-GI score (p=0.04) and positively associated with diarrhoea (p=0.03), but not with CFA. Along the four study visits, fCP significantly increased (from 62 to 256 µg/g) and pulmonary function decreased (from 97% to 87%), with a significant inverse association between the two study outcomes (p<0.001). CONCLUSIONS: In children with CF, fCP levels are inversely associated with pulmonary function and thus the specificity of fCP as a marker of intestinal inflammation in paediatric patients with CF warrants further investigation.
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Fibrose Cística , Fezes , Complexo Antígeno L1 Leucocitário , Humanos , Fibrose Cística/fisiopatologia , Fibrose Cística/metabolismo , Complexo Antígeno L1 Leucocitário/análise , Criança , Fezes/química , Feminino , Masculino , Estudos Prospectivos , Pré-Escolar , Adolescente , Europa (Continente) , Biomarcadores/análise , Biomarcadores/metabolismo , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/etiologia , Volume Expiratório Forçado/fisiologiaRESUMO
BACKGROUND: The need for an early and accurate diagnosis in celiac disease (CD) has focused attention on new diagnostic approaches, based on the efficiency of serological markers and the high negative predictive value of human leukocyte antigen (HLA) non-DQ2/8. METHODS: We performed a retrospective review of all of the patients suspected of having CD who had undergone a small bowel biopsy in our gastroenterology unit. All symptomatic children with serological marker at time of biopsy (immunoglobulin A-tissue transglutaminase antibody, endomysial antibody, and HLA genotype) were included. The triple test (TT) was positive if immunoglobulin A-tissue transglutaminase antibody was 10 times the upper limit of normal, plus positive endomysial antibody plus human leukocyte antigen-DQ2/DQ8. RESULTS: A total of 150 patients met the inclusion criteria and were enrolled in the study. One hundred sixteen were positive for the TT; 113 of 116 (97.4%) had a Marsh 2/3 histological lesion and had been considered to have CD. Thus, positive predictive value of the TT was 97.4%. The other 3 cases (2.6%) had Marsh 0/1 lesion, so we consider them to be false-positives for the TT; however, on follow-up, all 3 children developed histological damage after a gluten challenge. Finally, the positive predictive value of the TT was 100%. Thirty-four patients were negative for the TT: 22 patients are celiac, 3 are celiac but challenge gluten diet is pending, and the 9 patients left have other gastrointestinal disorder. CONCLUSIONS: Our study supports the view that in selected children who are symptomatic and positive for the TT, CD diagnosis could be established independent of histological findings.
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Autoanticorpos/análise , Doença Celíaca/diagnóstico , Proteínas de Ligação ao GTP/antagonistas & inibidores , Antígenos HLA/genética , Fibras Musculares Esqueléticas/imunologia , Guias de Prática Clínica como Assunto , Transglutaminases/antagonistas & inibidores , Adolescente , Biomarcadores/sangue , Doença Celíaca/sangue , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Pré-Escolar , Europa (Continente) , Feminino , Seguimentos , Antígenos HLA/análise , Haplótipos , Humanos , Imunoglobulina A/análise , Lactente , Mucosa Intestinal/patologia , Masculino , Valor Preditivo dos Testes , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos , Sociedades CientíficasRESUMO
BACKGROUND: low evidence on the dose of enzymatic supplements used in pancreatic enzyme replacement therapy (PERT) is available. AIM: assessing if fat, protein and starch absorption could be related to the dose of the enzymatic supplement, the intra-patient variability in the dose and macronutrient intake. METHODS: Four-day food records and 3-day faecal samples were prospectively collected in 69 children with cystic fibrosis. Pearson correlations between enzyme dose and macronutrient absorption, and beta regression models were applied to explain the results. RESULTS: the supply of protease units per protein intake (PU/g protein) in relation to lipase units per fat intake (LU/g fat) was low and the intra-patient variability in the dose of enzymes was ±1331 LU/g fat. Fat and starch absorption was >90% while for protein it was 81.5%. The coefficient of fat absorption was associated with an interaction between the dose of LU/g fat and its variability among different days. Lipid and protein intake were also determinants of the coefficient of fat absorption. CONCLUSION: the dose of PERT should be re-adjusted to the amount of dietary fat of every meal (constant LU/g fat) to minimize variability and increase fat absorption. Also, the supply of protease should be increased to prevent from protein malabsorption.
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Fibrose Cística , Insuficiência Pancreática Exócrina , Humanos , Criança , Fibrose Cística/tratamento farmacológico , Fibrose Cística/complicações , Pâncreas , Gorduras na Dieta , Terapia de Reposição de Enzimas/métodos , Peptídeo Hidrolases/uso terapêutico , Nutrientes , Insuficiência Pancreática Exócrina/complicaçõesRESUMO
Studies are scarce regarding IgG anti-tissue transglutaminase 2 (tTG) normalization in selective IgA deficient (SIgAD) celiac disease (CD) patients after beginning a gluten free diet (GFD). The aim of this study is to analyse the decreasing dynamics of IgG anti-tTG in patients diagnosed with CD who start a GFD. To achieve this objective, IgG and IgA anti-tTG levels at diagnosis and during follow-up in 11 SIgAD CD patients and in 20 IgA competent CD patients were retrospectively evaluated. At diagnosis, statistical differences were not found when comparing IgA anti-tTG levels of IgA competent subjects with IgG anti-tTG levels of SIgAD subjects. Regarding the decreasing dynamics, even though no statistical differences were found (p = 0.06), normalization rates were slower for SIgAD CD patients. After 1 and 2 years on GFD, respectively, only 18.2% and 36.3% of the SIgAD CD patients normalized IgG anti-tTG levels; otherwise, IgA anti-tTG reached values under the reference values in 30% and 80% of the IgA competent patients in the same time-points. Although IgG anti-tTG has demonstrated a high diagnostic efficiency in SIgAD CD pediatric patients, this test does not appear to be as precise for long-term GFD response monitoring as IgA anti-tTG levels in IgA sufficient patients.
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Doença Celíaca , Deficiência de IgA , Humanos , Autoanticorpos , Doença Celíaca/diagnóstico , Dieta Livre de Glúten , Deficiência de IgA/diagnóstico , Imunidade , Imunoglobulina A , Imunoglobulina G , Estudos Retrospectivos , TransglutaminasesRESUMO
The association between low bone mineral density (BMD) and inflammatory bowel disease (IBD) is already known. Our study, performed in Spanish pediatric IBD patients at diagnosis onset, shows that low BMD already existed at the beginning of the disease. Low weight and height are also associated with low BMD and have to be considered as risk factors. INTRODUCTION: Inflammatory bowel disease (IBD) has been reported to be associated, even at disease onset, with low bone mass. The aim of this study was to know the bone mineral density (BMD) status in the IBD pediatric population of group of Spanish children, at the time of diagnosis. MATERIAL AND METHODS: Retrospective review of patients' records from pediatric IBD patients diagnosed in our unit in the last 10 years. BMD was measured at the time of diagnosis and was expressed by Z-score. RESULTS: Fifty-seven patients were included. Sixty-one percent were male and 47.4% had Crohn's disease (CD). Average age was 11.18 (SD 2.24) years old. Median BMD Z-score was - 0.30 (interquartile range: - 1.10 to + 0.10). Low BMD, defined as Z-score ≤ - 2SD, was present in 5% of patients, but there was no single patient with osteoporosis. There were no differences in BMD between Ulcerative Colitis (UC) and CD. Statistical differences appeared between healthy Spanish pediatric population and our IBD cohort, these having lower BMD for the same age and gender. A linear regression analysis showed a significant association between BMD Z-score and patient´s weight and height Z-score with a p values of 0.001 and 0.048, respectively. CONCLUSIONS: Suboptimal bone density is present at diagnosis in Spanish pediatric patients with IBD. There is no difference in BMD between patients with CD and UC. Lower weight and height are associated with a lower BMD; thus these data at IBD diagnosis should be considered as a risk factor for bone disease in the pediatric population.
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Doenças Inflamatórias Intestinais , Osteoporose , Absorciometria de Fóton , Densidade Óssea , Criança , Pré-Escolar , Humanos , Masculino , Estudos RetrospectivosRESUMO
According to European Society for Paediatric Gastroenterology, Hepatology, and Nutrition 2020 criteria for celiac disease diagnosis, the small bowel biopsy (SBB) can be omitted in selected circumstances, even in asymptomatic patients. Hence, we have conducted a retrospective study to identify the histological findings of the asymptomatic patients with antitransglutaminase IgA antibodies 10 times above the upper limit of normal and positive antiendomisium antibodies; 5/24 patients fulfilling these criteria had, however, a nonconclusive SBB and were diagnosed with potential celiac disease. The nonbiopsy approach in these cases needs to be carefully evaluated and the risk of overdiagnosis pondered as the management and evolution of potential celiac disease cases is still a matter of study.
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Doença Celíaca , Autoanticorpos , Biópsia , Criança , Humanos , Imunoglobulina A , Estudos Retrospectivos , TransglutaminasesRESUMO
Cystic Fibrosis (CF) is a life-long genetic disease, causing increased energy needs and a healthy diet with a specific nutrient distribution. Nutritional status is an indicator of disease prognosis and survival. This study aimed at assessing the effectiveness of a self-management mobile app in supporting patients with CF to achieve the dietary goals set by the CF nutrition guidelines. A clinical trial was conducted in pancreatic insufficient children with CF, followed in six European CF centres, where the self-management app developed within the MyCyFAPP project was used for six months. To assess secondary outcomes, three-day food records were compiled in the app at baseline and after 3 and 6 months of use. Eighty-four subjects (mean 7.8 years old) were enrolled. Compared to baseline, macronutrient distribution better approximated the guidelines, with protein and lipid increasing by 1.0 and 2.1% of the total energy intake, respectively, by the end of the study. Consequently, carbohydrate intake of the total energy intake decreased significantly (-2.9%), along with simple carbohydrate intake (-2.4%). Regarding food groups, a decrease in ultra-processed foods was documented, with a concomitant increase in meat and dairy. The use of a self-management mobile app to self-monitor dietary intake could become a useful tool to achieve adherence to guideline recommendations, if validated during a longer period of time or against a control group.
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Fibrose Cística , Ingestão de Alimentos , Nutrientes , Autogestão , Telemedicina/métodos , Criança , Pré-Escolar , Dieta , Comportamento Alimentar , Feminino , Humanos , Masculino , Aplicativos Móveis , Política Nutricional , Estado NutricionalRESUMO
BACKGROUND: Patients with cystic fibrosis (CF) and pancreatic insufficiency need pancreatic enzyme replacement therapy (PERT) for dietary lipids digestion. There is limited evidence for recommending the adequate PERT dose for every meal, and controlling steatorrhea remains a challenge. This study aimed to evaluate a new PERT dosing method supported by a self-management mobile-app. METHODS: Children with CF recruited from 6 European centres were instructed to use the app, including an algorithm for optimal PERT dosing based on in vitro digestion studies for every type of food. At baseline, a 24h self-selected diet was registered in the app, and usual PERT doses were taken by the patient. After 1 month, the same diet was followed, but PERT doses were indicated by the app. Change in faecal fat and coefficient of fat absorption (CFA) were determined. RESULTS: 58 patients (median age 8.1 years) participated. Baseline fat absorption was high: median CFA 96.9%, median 2.4g faecal fat). After intervention CFA did not significantly change, but range of PERT doses was reduced: interquartile ranges narrowing from 1447-3070 at baseline to 1783-2495 LU/g fat when using the app. Patients with a low baseline fat absorption (CFA<90%, n=12) experienced significant improvement in CFA after adhering to the recommended PERT dose (from 86.3 to 94.0%, p=0.031). CONCLUSION: the use of a novel evidence-based PERT dosing method, based on in vitro fat digestion studies incorporating food characteristics, was effective in increasing CFA in patients with poor baseline fat absorption and could safely be implemented in clinical practice.
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Fibrose Cística/tratamento farmacológico , Dieta , Terapia de Reposição de Enzimas/métodos , Aplicativos Móveis , Pâncreas/enzimologia , Criança , Europa (Continente) , Medicina Baseada em Evidências , Feminino , Humanos , MasculinoRESUMO
Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed.
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The aim of this study was to assess the efficacy of anti-endomysium antibodies (EMA) as a serological marker for celiac disease (CD) diagnosis in a pediatric population. A retrospective study of pediatric patients who underwent a CD serological markers study: EMA and anti-tissue transglutaminase antibodies (anti-TG2). Clinical symptomatology, degree of histological lesion, human leukocyte antigen (HLA) haplotype compatible with CD (HLA DQ2 and/or DQ8), and final diagnosis were taken into account. We included 445 patients who were classified in two groups according to the final diagnosis. Group 1: 232 children with CD, 91.4% of whom exhibited small intestinal villous atrophy, 228 being EMA-positive and four EMA-negative. Group 2: 213 children with a non-CD diagnosis, 212 EMA negative and one EMA positive. Both antibodies, EMA and anti-TG2, reached similar sensitivities, 98% and 99% respectively, while EMA had a higher specificity (99%) than anti-TG2 (93%). By using both markers combined, compared to using anti-TG2 alone, 5.7% of patients are better diagnosed. However, when we compare the efficacy of EMA and anti-TG2 in asymptomatic and symptomatic patients, the sensitivity of EMA is 98% irrespective of symptoms, thus higher than for anti-TG2 ≥10 × upper limit of normal (ULN) (respectively 77% and 84%). Our results support the use of EMA to increase CD diagnostic accuracy in a non-biopsy approach, especially in asymptomatic children.
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BACKGROUND: Most patients with cystic fibrosis (CF) suffer from pancreatic insufficiency, leading to fat malabsorption, malnutrition and abdominal discomfort. Until recently, no specific tool was available for assessing gastro-intestinal related quality of life (GI QOL) in patients with CF. As the Horizon2020 project MyCyFAPP aims to improve GI QOL by using a newly designed mobile application, a sensitive and reliable outcome measure was needed. We aimed to study the applicability of the existing child-specific Pediatric Quality of Life Inventory, Gastrointestinal Symptoms Scales and Module (PedsQL GI) in children with CF. METHODS: A multicenter, prospective observational study was performed in 6 European centers to validate the PedsQL GI in children with CF during 3 months. RESULTS: In total, 248 children and their parents were included. Within-patient variability of PedsQL GI was low (24.11), and there was reasonable agreement between children and parents (ICC 0.681). Nine of 14 subscales were informative (no ceiling effect). The PedsQL GI and the median scores for 4 subscales were significantly lower in patients compared to healthy controls. Positive associations were found between PedsQL GI and age (OR = 1.044, p = 0.004) and between PedsQL GI and BMI z-score (OR = 1.127, p = 0.036). PedsQL GI correlated with most CFQ-R subscales (r 0.268 to 0.623) and with a Visual Analogue Scale (r = 0.20). CONCLUSIONS: PedsQL GI is a valid and applicable instrument to assess GI QOL in children with CF. Future research efforts should examine the responsiveness of the CF PedsQL GI to change in the context of clinical interventions and trials.