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1.
Hum Immunol ; 84(4): 290-295, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36858916

RESUMEN

Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe. We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as "half DQ2". Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.


Asunto(s)
Enfermedad Celíaca , Antígenos HLA-DQ , Humanos , Niño , España/epidemiología , Antígenos HLA-DQ/genética , Enfermedad Celíaca/genética , Predisposición Genética a la Enfermedad , Alelos , Genotipo , Haplotipos , Cadenas beta de HLA-DQ/genética , Cadenas alfa de HLA-DQ/genética
2.
J Pediatr Gastroenterol Nutr ; 75(6): 743-748, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36123770

RESUMEN

OBJECTIVES: The objective of this study was to assess the association between serological markers and changes of the intestinal mucosa in children with celiac disease (CD). METHODS: Clinical data from CD patients under 15 years old were collected from the participating centers in an on-line multicenter nationwide observational Spanish registry called REPAC-2 (2011-2017). Correlation between anti-tissue transglutaminase antibodies (t-TGA) levels and other variables, including mucosal damage and clinical findings (symptoms, age, and gender), was assessed. RESULTS: A total of 2955 of 4838 patients had t-TGA and a small bowel biopsy (SBB) performed for CD diagnosis. A total of 1931 (66.2%) patients with normal IgA values had a Marsh 3b-c lesion and 1892 (64.9%) had t-TGA Immunoglobulin A (IgA) ≥ 10 times upper limit of normal (ULN). There is a statistically significant association between t-TGA IgA levels and the degree of mucosal damage ( P < 0.001), the higher the t-TGA IgA levels the more severe the mucosal damage. Those patients who reported symptoms had more severe mucosal damage ( P = 0.001). On the contrary, there was a negative association between age and changes of the intestinal mucosa ( P < 0.001). No association was found with gender. Regarding the IgA-deficient patients, 47.4% (18 cases) had t-TGA Immunoglobulin A (IgA) ≥ 10 times ULN and a Marsh 3b-c lesion was observed in 68.4% (26 patients). No statistical relation was found between t-TGA IgG levels and the changes of the intestinal mucosa, neither a relation with age, gender, or symptoms. CONCLUSIONS: There is a positive correlation between t-TGA IgA levels and the severity of changes of the intestinal mucosa. Such correlation was not found in IgA-deficient patients who had positive t-TGA IgG serology. The results in this group of patients support the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition recommendations about the need of performing a SBB in IgA-deficient individuals despite high t-TGA IgG levels.


Asunto(s)
Enfermedad Celíaca , Adolescente , Niño , Humanos , Autoanticuerpos , Biopsia , Enfermedad Celíaca/diagnóstico , Inmunoglobulina A , Inmunoglobulina G , Transglutaminasas
3.
Aliment Pharmacol Ther ; 49(12): 1484-1492, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31074004

RESUMEN

BACKGROUND: Treatment for coeliac disease is a lifelong strict gluten-free diet. Although guidelines recommend regular follow-up with dietary interviews and coeliac serology, these methods may be inaccurate. AIM: To evaluate the usefulness of faecal gluten immunogenic peptides to support the diagnosis and to determine the adherence to the gluten-free diet in coeliac children. METHODS: Multicentre prospective observational study including 64 coeliac children. Faecal gluten peptides, and tissue transglutaminase and deamidated gliadin peptide antibodies were analyzed at diagnosis, and 6, 12 and 24 months thereafter. Gluten consumption was estimated from gluten peptide levels. RESULTS: Most children (97%) had detectable gluten peptides at diagnosis. On a gluten-free diet, the rate of gluten peptides increased from 13% at 6 months to 25% at 24 months. Mean estimated gluten exposure dropped from 5543 mg/d at diagnosis to 144 mg/d at 6 months, then increased to 606 mg/d by 24 months. In contrast, deamidated gliadin peptide antibodies normalised and only 20% had elevated tissue transglutaminase antibody by 24 months. The elevation of tissue transglutaminase antibody was more prolonged in patients with detectable gluten peptides (P < 0.05). Nevertheless, absolute levels of tissue transglutaminase antibody had low sensitivity to identify patients with detectable gluten peptides (P > 0.1). Dietitian assessment was only moderately correlated with gluten peptide detection (κ = 0.5). CONCLUSIONS: Faecal gluten peptides testing may guide treatment of coeliac disease prior to diagnosis and during the assessment diet adherence. Further studies could determine if early identification of gluten exposure reduces the need for expensive/invasive investigations for non-responsive coeliac disease. ClinicalTrials.gov Number: NCT02711397.


Asunto(s)
Enfermedad Celíaca/metabolismo , Heces/química , Glútenes/química , Péptidos/análisis , Adolescente , Anticuerpos/sangre , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Dieta Sin Gluten , Femenino , Humanos , Lactante , Masculino , Péptidos/inmunología , Transglutaminasas/inmunología
4.
Gut Microbes ; 9(6): 551-558, 2018 11 02.
Artículo en Inglés | MEDLINE | ID: mdl-29672211

RESUMEN

Celiac disease (CD) is an immune-mediated enteropathy involving genetic and environmental factors, whose interaction influences disease risk. The intestinal microbiota, including viruses and bacteria, could play a role in the pathological process leading to gluten intolerance. In this study, we investigated the prevalence of pathogens in the intestinal microbiota of infants at familial risk of developing CD. We included 127 full-term newborns with at least one first-degree relative with CD. Infants were classified according to milk-feeding practice (breastfeeding or formula feeding) and HLA-DQ genotype (low, intermediate or high genetic risk). The prevalence of pathogenic bacteria and viruses was assessed in the faeces of the infants at 7 days, 1 month and 4 months of age. The prevalence of Clostridium perfringens was higher in formula-fed infants than in breast-fed over the study period, and that of C. difficile at 4 months. Among breastfed infants, a higher prevalence of enterotoxigenic E. coli (ETEC) was found in infants with the highest genetic risk compared either to those with a low or intermediate risk. Among formula-fed infants, a higher prevalence of ETEC was also found in infants with a high genetic risk compared to those of intermediate risk. Our results show that specific factors, such as formula feeding and the HLA-DQ2 genotype, previously linked to a higher risk of developing CD, influence the presence of pathogenic bacteria differently in the intestinal microbiota in early life. Further studies are warranted to establish whether these associations are related to CD onset later in life.


Asunto(s)
Bacterias/aislamiento & purificación , Enfermedad Celíaca/microbiología , Microbioma Gastrointestinal , Predisposición Genética a la Enfermedad , Bacterias/clasificación , Bacterias/genética , Enfermedad Celíaca/genética , Clostridium/aislamiento & purificación , Escherichia coli Enterotoxigénica/aislamiento & purificación , Heces/microbiología , Heces/virología , Conducta Alimentaria , Microbioma Gastrointestinal/genética , Genotipo , Antígenos HLA-DQ/genética , Humanos , Recién Nacido , Riesgo , España
6.
Am J Gastroenterol ; 111(10): 1456-1465, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27644734

RESUMEN

OBJECTIVES: Treatment for celiac disease (CD) is a lifelong strict gluten-free diet (GFD). Patients should be followed-up with dietary interviews and serology as CD markers to ensure adherence to the diet. However, none of these methods offer an accurate measure of dietary compliance. Our aim was to evaluate the measurement of gluten immunogenic peptides (GIP) in stools as a marker of GFD adherence in CD patients and compare it with traditional methods of GFD monitoring. METHODS: We performed a prospective, nonrandomized, multicenter study including 188 CD patients on GFD and 84 healthy controls. Subjects were given a dietary questionnaire and fecal GIP quantified by enzyme-linked immunosorbent assay (ELISA). Serological anti-tissue transglutaminase (anti-tTG) IgA and anti-deamidated gliadin peptide (anti-DGP) IgA antibodies were measured simultaneously. RESULTS: Of the 188 celiac patients, 56 (29.8%) had detectable GIP levels in stools. There was significant association between age and GIP in stools that revealed increasing dietary transgressions with advancing age (39.2% in subjects ≥13 years old) and with gender in certain age groups (60% in men ≥13 years old). No association was found between fecal GIP and dietary questionnaire or anti-tTG antibodies. However, association was detected between GIP and anti-DGP antibodies, although 46 of the 53 GIP stool-positive patients were negative for anti-DGP. CONCLUSIONS: Detection of gluten peptides in stools reveals limitations of traditional methods for monitoring GFD in celiac patients. The GIP ELISA enables direct and quantitative assessment of gluten exposure early after ingestion and could aid in the diagnosis and clinical management of nonresponsive CD and refractory CD. Trial registration number NCT02711397.


Asunto(s)
Autoanticuerpos/inmunología , Enfermedad Celíaca/dietoterapia , Registros de Dieta , Dieta Sin Gluten , Heces/química , Proteínas de Unión al GTP/inmunología , Gliadina/inmunología , Glútenes/análisis , Inmunoglobulina A/inmunología , Cooperación del Paciente , Transglutaminasas/inmunología , Adolescente , Factores de Edad , Anticuerpos/inmunología , Estudios de Casos y Controles , Enfermedad Celíaca/inmunología , Niño , Preescolar , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Proteína Glutamina Gamma Glutamiltransferasa 2 , Pruebas Serológicas , Encuestas y Cuestionarios , Adulto Joven
7.
J Pediatr Gastroenterol Nutr ; 62(2): 284-91, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26020370

RESUMEN

OBJECTIVES: A large retrospective multicentre study was conducted in Spain to evaluate the efficiency of the new European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) criteria for the diagnosis of coeliac disease (CD). METHODS: The study protocol was approved by the ethics committee of Hospital Universitari i Politècnic La Fe (Valencia, Spain). The present study included 2177 children (ages 0.6-15.9 years) with small bowel biopsy (SBB) performed for diagnostic purposes (from 2000 to 2009) and with a minimum 2-year follow-up after biopsy. RESULTS: CD was diagnosed in 2126 patients (97.5%) and excluded in 51 (2.5%). Tissue transglutaminase antibodies (TG2A), anti-endomysial antibodies (EMA), and human leukocyte antigen (HLA) were reported in 751 patients, 640 symptomatic and 111 asymptomatic. TG2A levels >10 times the upper limit of normal, plus positive EMA and HLA DQ2 and/or DQ8 haplotypes, were found in 336 symptomatic patients, all of them with final diagnosis of CD. In 65 of 69 asymptomatic patients, 65 had confirmed CD and 4 did not have CD. According to the 2012 ESPGHAN guidelines, SBB may have been omitted in 52% of the symptomatic patients with CD with serologic and HLA available data. Gluten challenge was performed in 158 children, 75 of them <2 years at first biopsy. Only 1 patient in whom according to the new proposed diagnostic criteria gluten challenge would not have been mandatory did not relapse. CONCLUSIONS: Our results support the new ESPGHAN 2012 guidelines for diagnosis of CD can be safely used without the risk of overdiagnosis. A prospective multicentre study is needed to confirm our results.


Asunto(s)
Anticuerpos/metabolismo , Enfermedad Celíaca/diagnóstico , Dieta , Glútenes/inmunología , Antígenos HLA/genética , Intestino Delgado/patología , Adolescente , Biopsia , Enfermedad Celíaca/genética , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/patología , Niño , Preescolar , Humanos , Lactante , Intestino Delgado/metabolismo , Guías de Práctica Clínica como Asunto , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Sociedades Médicas , España
8.
J Pediatr Gastroenterol Nutr ; 59(4): 522-6, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24886992

RESUMEN

OBJECTIVES: The aim of this study was to assess the incidence and clinical pattern of celiac disease (CD) presently diagnosed in Spanish children. METHODS: A prospective, multicenter, nationwide registry of new cases of CD in children <15 years was conducted from June 1, 2006 to May 31, 2007. The parameters studied were age at diagnosis, sex, clinical symptoms, associated diseases, nutritional status, CD serology, histological lesions, and HLA-DQ2/-DQ8. The crude incidence rate of CD was calculated as new cases per 1000 live births and as new cases per 100,000 person-years <15 years of age. RESULTS: A total of 974 new cases of CD were included. The median age at diagnosis was 2.3 years; 39.5% of CD diagnoses occurred in the first 2 years, 42% between 2 and 6, and 18.4% from 6 to 15. Total number of cases in each age group was 385, 409, and 180, respectively. Regarding clinical presentation 70.9% showed classical symptoms, 21.9% were nonclassical, and 7% were asymptomatic. A total of 95.7% of 931, 94.7% of 611, and 86.7% of 651 children tested positive, respectively, for immunoglobulin A (IgA) anti-transglutaminase type 2 antibodies, IgA endomysial antibodies, and IgA anti-gliadin antibodies. Villous atrophy was observed in 92.4% and increased intraepithelial lymphocytes with crypt hyperplasia in 3.3%. Of the children, 55% had normal growth, and 3.4% were overweight. The HLA phenotype was DQ2: 88.3%, DQ2/DQ8: 8.4%, and DQ8: 2.3%. The incidence rate was 7.9 cases of CD per 1000 live births and 54 cases per 100,000 person-years. CONCLUSIONS: In Spain, the most frequent clinical presentation of CD is the classical form, mainly diagnosed during the first 2 years of life. The observed incidence of CD in Spanish children is much higher than the present CD incidence rates observed in other European countries.


Asunto(s)
Anticuerpos/sangre , Enfermedad Celíaca/epidemiología , Mucosa Intestinal , Linfocitos/metabolismo , Peso Corporal , Enfermedad Celíaca/sangre , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/patología , Niño , Preescolar , Femenino , Antígenos HLA-DQ/sangre , Humanos , Incidencia , Mucosa Intestinal/inmunología , Mucosa Intestinal/patología , Masculino , Fenotipo , Sistema de Registros , España/epidemiología
9.
Eur J Nutr ; 52(2): 637-46, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22576041

RESUMEN

PURPOSE: In addition to genetic risk, environmental factors might influence coeliac disease (CD) development. We sought to assess the effect of the interaction between milk-feeding practices and the HLA-DQ genotype on peripheral lymphocyte subsets and their activation markers in infants at familial risk for CD. METHODS: 170 newborns were classified in 3 different genetic risk groups (high risk, HR; intermediate risk, IR; and low risk, LR) after DQB1 and DQA1 typing. Lymphocyte subsets were studied at the age of 4 months by flow cytometry analysis. RESULTS: 79 infants were receiving exclusive breastfeeding (BF) and 91 partial breastfeeding or formula feeding (FF). Regarding genetic risk, 40 infants were classified in HR group, 75 in IR group and 55 in LR group. Two-way ANOVA did not show significant interactions between the type of milk feeding and genetic risk group on the lymphocyte subsets analysed. One-way ANOVA for milk-feeding practice alone showed that the percentage of CD4 + CD25+ cells was significantly higher in BF group than in FF group (BF, 10.92 ± 2.71; FF, 9.94 ± 2.96; p = 0.026), and absolute counts of CD4 + CD38+ cells were significantly higher in FF group than in BF group (FF, 2,881.23 ± 973.48; BF, 2,557.95 ± 977.06; p = 0.038). One-way ANOVA for genetic risk alone showed that absolute counts of NK cells were significantly higher in IR group than HR and LR groups (IR, 539.24 ± 340.63; HR, 405.01 ± 239.53; LR, 419.86 ± 262.85; p = 0.028). CONCLUSION: Lymphocyte subset profiles in the early stages of life could be modulated by milk-feeding practices and genetic risk separately. Breastfeeding might have a positive immunomodulatory effect on lymphocyte subsets in infants at risk of CD.


Asunto(s)
Lactancia Materna , Enfermedad Celíaca/genética , Fórmulas Infantiles , Subgrupos Linfocitarios/inmunología , Análisis de Varianza , Linfocitos T CD4-Positivos/inmunología , Linfocitos T CD4-Positivos/metabolismo , Enfermedad Celíaca/etiología , Enfermedad Celíaca/prevención & control , Antígenos HLA-DQ/genética , Antígenos HLA-DQ/inmunología , Humanos , Lactante , Células Asesinas Naturales/inmunología , Subgrupos Linfocitarios/metabolismo , Factores de Riesgo
10.
PLoS One ; 7(2): e30791, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22319588

RESUMEN

Interactions between environmental factors and predisposing genes could be involved in the development of coeliac disease (CD). This study has assessed whether milk-feeding type and HLA-genotype influence the intestinal microbiota composition of infants with a family history of CD. The study included 164 healthy newborns, with at least one first-degree relative with CD, classified according to their HLA-DQ genotype by PCR-SSP DQB1 and DQA1 typing. Faecal microbiota was analysed by quantitative PCR at 7 days, and at 1 and 4 months of age. Significant interactions between milk-feeding type and HLA-DQ genotype on bacterial numbers were not detected by applying a linear mixed-model analysis for repeated measures. In the whole population, breast-feeding promoted colonization of C. leptum group, B. longum and B. breve, while formula-feeding promoted that of Bacteroides fragilis group, C. coccoides-E. rectale group, E. coli and B. lactis. Moreover, increased numbers of B. fragilis group and Staphylococcus spp., and reduced numbers of Bifidobacterium spp. and B. longum were detected in infants with increased genetic risk of developing CD. Analyses within subgroups of either breast-fed or formula-fed infants indicated that in both cases increased risk of CD was associated with lower numbers of B. longum and/or Bifidobacterium spp. In addition, in breast-fed infants the increased genetic risk of developing CD was associated with increased C. leptum group numbers, while in formula-fed infants it was associated with increased Staphylococcus and B. fragilis group numbers. Overall, milk-feeding type in conjunction with HLA-DQ genotype play a role in establishing infants' gut microbiota; moreover, breast-feeding reduced the genotype-related differences in microbiota composition, which could partly explain the protective role attributed to breast milk in this disorder.


Asunto(s)
Enfermedad Celíaca/etiología , Conducta Alimentaria , Predisposición Genética a la Enfermedad , Intestinos/microbiología , Metagenoma/genética , Lactancia Materna , Enfermedad Celíaca/genética , Enfermedad Celíaca/microbiología , Familia , Genotipo , Antígenos HLA-DQ , Humanos , Lactante , Fórmulas Infantiles , Recién Nacido , Leche Humana
11.
Appl Environ Microbiol ; 77(15): 5316-23, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21642397

RESUMEN

Celiac disease (CD) is an immune-mediated enteropathy involving genetic and environmental factors whose interaction might influence disease risk. The aim of this study was to determine the effects of milk-feeding practices and the HLA-DQ genotype on intestinal colonization of Bacteroides species in infants at risk of CD development. This study included 75 full-term newborns with at least one first-degree relative suffering from CD. Infants were classified according to milk-feeding practice (breast-feeding or formula feeding) and HLA-DQ genotype (high or low genetic risk). Stools were analyzed at 7 days, 1 month, and 4 months by PCR and denaturing gradient gel electrophoresis (DGGE). The Bacteroides species diversity index was higher in formula-fed infants than in breast-fed infants. Breast-fed infants showed a higher prevalence of Bacteroides uniformis at 1 and 4 months of age, while formula-fed infants had a higher prevalence of B. intestinalis at all sampling times, of B. caccae at 7 days and 4 months, and of B. plebeius at 4 months. Infants with high genetic risk showed a higher prevalence of B. vulgatus, while those with low genetic risk showed a higher prevalence of B. ovatus, B. plebeius, and B. uniformis. Among breast-fed infants, the prevalence of B. uniformis was higher in those with low genetic risk than in those with high genetic risk. Among formula-fed infants, the prevalence of B. ovatus and B. plebeius was increased in those with low genetic risk, while the prevalence of B. vulgatus was higher in those with high genetic risk. The results indicate that both the type of milk feeding and the HLA-DQ genotype influence the colonization process of Bacteroides species, and possibly the disease risk.


Asunto(s)
Bacteroides , Lactancia Materna , Enfermedad Celíaca/genética , Enfermedad Celíaca/microbiología , Intestinos/microbiología , Animales , Ingestión de Alimentos , Ambiente , Heces/microbiología , Conducta Alimentaria , Antígenos HLA-DQ/genética , Humanos , Lactante , Alimentos Infantiles , Fórmulas Infantiles , Recién Nacido , Leche , ARN Ribosómico 16S/análisis , Factores de Riesgo
12.
J Pediatr Gastroenterol Nutr ; 45(5): 546-50, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18030231

RESUMEN

OBJECTIVE: To assay the efficiency for celiac disease (CD) screening of 2 immunochromatographic visual stick assays based on human recombinant tissue transglutaminase (tTG). One was the antitissue transglutaminase antibodies (AtTGA) stick for IgA/G antibodies to tTG detection, the other was the AtTGA/antigliadin antibodies (AGA) stick for IgA antibodies for tTG and/or gliadins. PATIENTS AND METHODS: In a prospective multicenter study, 4 pediatric gastroenterology units from Spain and 2 from Latin America enrolled 72 control children with a normal small bowel mucosa and 113 untreated patients with CD with Marsh type 3 lesions. RESULTS: Evaluation of results by the gastroenterologists and by 2 independent observers at the coordination center showed a remarkably low interobserver variability. For the AtTGA stick, sensitivity was 96.5% and specificity was 98.6%. The AtTGA/AGA stick displayed a sensitivity of 94.5% and a specificity of 98.6% for AtTGA and a sensitivity of 63.1% and a specificity of 95.2% for AGA. The highest efficiency and positive likelihood ratio was obtained for the AtTGA stick, higher than for IgA AtTGA by enzyme-linked immunosorbent assay. One additional advantage was that previous investigation of total serum IgA levels could be eluded. The IgA AtTGA/AGA stick, with an efficiency of 95.1%, compared with 89.2% when the combined results of the 2 enzyme-linked immunosorbent assays were considered, turned out to be an excellent diagnostic tool for infants with no IgA deficiency. CONCLUSION: These 2 assays are extremely efficient for CD screening, by combining a high diagnostic accuracy with the simplicity and rapidity of visual methods.


Asunto(s)
Enfermedad Celíaca/diagnóstico , Cromatografía/métodos , Tamizaje Masivo/métodos , Adolescente , Anticuerpos Antiidiotipos/inmunología , Biomarcadores/sangre , Enfermedad Celíaca/inmunología , Niño , Preescolar , Ensayo de Inmunoadsorción Enzimática , Gliadina/sangre , Gliadina/inmunología , Humanos , Inmunoensayo/métodos , Inmunoglobulina A/sangre , Inmunoglobulina A/inmunología , Inmunoglobulina G/sangre , Inmunoglobulina G/inmunología , Lactante , América Latina , Variaciones Dependientes del Observador , Valor Predictivo de las Pruebas , Estudios Prospectivos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , España , Transglutaminasas/sangre , Transglutaminasas/inmunología
13.
Colomb. med ; 38(1,supl.1): 41-49, ene.-mar. 2007. ilus
Artículo en Español | LILACS | ID: lil-586379

RESUMEN

La fibrosis quística (FQ) es una de las enfermedades genéticas mortales más frecuentes en la raza caucásica. Se caracteriza por una disfunción de las glándulas exocrinas, con insuficiencia pancreática y bronconeumopatía crónica. Es una enfermedad de transmisión autonómica recesiva, se sabe que el gen defectuoso está localizado en el cromosoma 7 humano, conocido como gen regulador de la conductancia transmembrana de la fibrosis quística (CFTR),y que de las más de mil mutaciones de este gen, la mutación DF508 es la más común, pues se halla en aproximadamente 70% de los alelos CFTR defectuosos. El diagnóstico de la FQ se ha basado clásicamente en la determinación de por lo menos 2-3 determinaciones positivas de electrólitos en sudor, junto con uno de los siguientes criterios clínicos: íleo meconial, historia familiar de FQ, insuficiencia pancreática exocrina, enfermedad pulmonar crónica, azoospermia obstructiva y síndrome de pérdida de sal. Los criterios diagnósticos actuales incluyen, junto a la presencia de las características clínicas, dos determinaciones de concentraciones de cloro en sudor superior a 60 mmol/l, o demostración de alteraciones en el transporte iónico a través del epitelio nasal (diferencia de potencial nasal) o la detección de dos mutaciones reconocidas de FQ.


Cystic fibrosis (CF) is one of the most frequent inherited mortal diseases in Caucasian population. Dysfunction in exocrine glands is described in CF patients, with severe pancreatic insufficiency and chronic lung disease. CF is inherited as an autosomal recessive disorder. More than 1000 disease-associated mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described. DF508 mutation is the most common mutation in the CF gen. Diagnosis in CF is based on clinical and laboratory tests findings. Meconial ileus, CF in other relatives, chronic lung disease, congenital absence of the vas deferens with azoospermia are among other clinical findings, main criteria in CF patients. Two positive results in sweat chloride test , or demonstration in nasal epithelial ionic transport alteration (nasal potential difference) and identification of two CF mutations in the patient are laboratory findings in CF.


Asunto(s)
Fibrosis Quística , Regulador de Conductancia de Transmembrana de Fibrosis Quística , Electrólitos , Mutación , Sudor
14.
Colomb. med ; 36(2,supl.1): 52-57, 2005.
Artículo en Español | LILACS | ID: lil-422871

RESUMEN

La enfermedad celíaca (EC) es una enteropatía de base autoinmune que se manifiesta en sujetos genéticamente susceptibles, asociada con genes que codifican para las moléculas HLA DQ2 (DQ A1*0501/DQB1*0201) y DQ8 (DQA1*0301/ DQB1*0302). Se caracteriza por una respuesta inmunológica a la ingesta del gluten de trigo y otras prolaminas relacionadas del centeno y la cebada. Las manifestaciones clínicas son diversas, puede haber formas sintomáticas digestivas “clásicas” en niños, y formas extradigestivas en personas de todas las edades. Las manifestaciones atípicas y extradigestivas contribuyen cada vez más a dificultar y demorar el diagnóstico de EC. El uso de marcadores serológicos, especialmente los anticuerpos contra la transglutaminasa tisular, facilita el proceso diagnóstico inicial, que se debe confirmar con una biopsia intestinal para poner de manifiesto unas lesiones histológicas características, con grados variables de atrofia vellositaria, hiperplasia de las criptas e infiltrado linfocitario


Asunto(s)
Niño , Enfermedad Celíaca
15.
Colomb. med ; 36(2,supl.1): 16-24, 2005.
Artículo en Español | LILACS | ID: lil-422878

RESUMEN

La enfermedad inflamatoria intestinal (EII) agrupa dos entidades clínicas bien diferenciadas entre sí, la colitis ulcerosa (CU) y la enfermedad de Crohn (EC). La CU se caracteriza por una inflamación difusa del colon, con compromiso del recto, que se extiende de manera proximal y continua. El proceso inflamatorio habitualmente se localiza en la mucosa y la submucosa colónica. La EC es una inflamación crónica y transmural, que afecta todas las capas del intestino y puede llegar a incluir a uno o varios segmentos del tracto digestivo, con localización predominante en íleon terminal, colon y región perianal. Los tramos entre zonas afectadas histológicamente son normales. Ambos trastornos se acompañan de manifestaciones tanto digestivas como extradigestivas en ocasiones: articulares, muco-cutáneas, hepatobiliares, nefro-urológicas y oculares principalmente. Tienen un curso crónico, donde se alternan fases de actividad con fases de latencia. Generalmente, con una buena anamnesis, y la ayuda de datos clínicos, analíticos, endoscópicos, histopatológicos y de distintas técnicas de imagen se puede llegar a un diagnóstico diferencial entre CU y EC. Los índices de actividad de la enfermedad son de gran utilidad para el adecuado control evolutivo


Asunto(s)
Colitis Ulcerosa , Enfermedad de Crohn
16.
Clin Gastroenterol Hepatol ; 2(6): 480-4, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15181616

RESUMEN

BACKGROUND & AIMS: We investigated two 1-step immunochromatographic visual assays based on human recombinant tissue-transglutaminase (t-TG) as an alternative to enzyme-linked immunosorbent assays (ELISAs) for celiac disease (CD) screening. METHODS: We used a tissue-transglutaminase (t-TG) stick, which detected immunoglobulin A/G (IgA/G) antibodies to t-TG, and a t-TG/antigliadin antibodies (AGA) stick, which detected IgA antibodies to both t-TG and AGA, as well as t-TG and AGA ELISAs, to determine t-TG and AGA antibodies in untreated celiac patients with subtotal villous atrophy. A total of 142 children (3 IgA-deficient sera) and 30 adults, and 140 controls (normal mucosa; 121 children and 19 adults), plus 23 sera from pediatric CD patients in remission were assayed. RESULTS: For pediatric patients, with the t-TG stick we obtained a sensitivity of 97.1% and a specificity of 99.0%, and in adults, 83.3% and 100%, respectively. The t-TG/AGA stick displayed a sensitivity of 95.7% and a specificity of 99.0% for t-TG and a sensitivity of 89.2% and a specificity of 95.8% for AGA in children, and a sensitivity of 80% and a specificity of 100% for t-TG and a sensitivity of 83.3% and a specificity of 100% for AGA in adults. Results were comparable with the corresponding ELISAs. CONCLUSIONS: The 2 visual assays are efficient for CD screening as an alternative to ELISAs. They are simple to handle and to interpret. By the combined use of the 2 sticks, IgA-deficient patients can be identified as positive in the t-TG (IgG/A) but negative in the t-TG/AGA (IgA) stick.


Asunto(s)
Enfermedad Celíaca/diagnóstico , Cromatografía/métodos , Inmunoensayo/métodos , Adolescente , Adulto , Anciano , Niño , Preescolar , Cromatografía/instrumentación , Femenino , Gliadina/inmunología , Humanos , Inmunoensayo/instrumentación , Inmunoglobulina A/análisis , Inmunoglobulina G/análisis , Lactante , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Transglutaminasas/inmunología
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