Pancreatitis en la fibrosis quística: correlación con el genotipo y estado pancreático / Pancreatitis in cystic fibrosis: association with genotype and pancreatic status

Introducción: La pancreatitis es una rara complicación en la evolución de pacientes con fibrosis quística (FQ). Puede presentarse en forma de episodios agudos, aislados o repetidos, o evolucionar a cronicidad con progresiva destrucción de la glándula. El objetivo de este estudio fue describir las características de una cohorte de pacientes que habían padecido pancreatitis, conocer su frecuencia e intentar encontrar posibles factores de riesgo asociados. Metodología: Estudio retrospectivo descriptivo de pacientes controlados en unidades de FQ de cinco hospitales españoles que habían padecido pancreatitis. Se recogieron datos demográficos, clínicos y analíticos, y relativos al estado pancreático y el genotipo. Resultados: De 520 pacientes, 17 presentaron pancreatitis. Una prevalencia del 3,3%, superior a la descrita en la literatura. Analizando el estado pancreático, se observó que 8 de ellos eran insuficientes pancreáticos (47,06%), hecho que contrasta, en parte, con lo referido clásicamente al considerar esta complicación más típica de pacientes con cierto grado de reserva pancreática. No se encontraron factores de riesgo ni asociaciones significativas con la genética, edad, sexo u otras características. Conclusiones: En nuestra serie, la prevalencia de pancreatitis es superior a la descrita en la literatura, no tratándose de una complicación exclusiva de suficientes pancreáticos. Se produce más frecuentemente durante la adolescencia o en el inicio de la edad adulta. La enfermedad pulmonar es leve en la mayoría. La genética es variable, sin poder establecerse una clara relación genotipo-fenotipo. Se debe observar a largo plazo la evolución de esta patología intercurrente y diseñar estudios más amplios para obtener resultados más significativos (AU)

Introduction: Pancreatitis is an uncommon complication of cystic fibrosis (CF). Either single or recurrent acute episodes can occur and it occasionally may follow a protracted course with relentless destruction of the pancreas. Moreover mild mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been found in many cases of idiopathic chronic pancreatitis. We describe a group of patients with CF who had one or more episodes of pancreatitis. We have estimated its prevalence in a large population of patients with CF across Spain. Methods: A retrospective descriptive study was conducted by collecting the demographic, clinical and laboratory data, pancreatic status and genotype of CF patients who attended the CF Units in 5 Spanish hospitals. Results: The overall number of CF patients under follow-up in the five centres was 520, of which 17 cases with pancreatitis were identified. The prevalence of pancreatitis in this population was 3.3%, higher than previously reported. Noticeably eight of the 17 patients (47.06%) had pancreatic insufficiency. This appears to be, partly, in contrast with that classically found, as this complication is usually associated with patients with a certain level of pancreatic reserve. No associations with genotype, age, gender or other factors were found. Conclusions: The prevalence of pancreatitis in our CF patients was higher than that found in other CF populations, and was not limited to patients with pancreatic sufficiency. It occurred mostly in teenagers and young adults often with mild pulmonary disease. The CF genotype was variable. The course of the patients should be carefully monitored, and further information on the long-term outcome of larger cohorts of patients is needed (AU)

[Pancreatitis in cystic fibrosis: association with genotype and pancreatic status]. / Pancreatitis en la fibrosis quística: correlación con el genotipo y estado pancreático.

INTRODUCTION: Pancreatitis is an uncommon complication of cystic fibrosis (CF). Either single or recurrent acute episodes can occur and it occasionally may follow a protracted course with relentless destruction of the pancreas. Moreover mild mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been found in many cases of idiopathic chronic pancreatitis. We describe a group of patients with CF who had one or more episodes of pancreatitis. We have estimated its prevalence in a large population of patients with CF across Spain. METHODS: A retrospective descriptive study was conducted by collecting the demographic, clinical and laboratory data, pancreatic status and genotype of CF patients who attended the CF Units in 5 Spanish hospitals. RESULTS: The overall number of CF patients under follow-up in the five centres was 520, of which 17 cases with pancreatitis were identified. The prevalence of pancreatitis in this population was 3.3%, higher than previously reported. Noticeably eight of the 17 patients (47.06%) had pancreatic insufficiency. This appears to be, partly, in contrast with that classically found, as this complication is usually associated with patients with a certain level of pancreatic reserve. No associations with genotype, age, gender or other factors were found. CONCLUSIONS: The prevalence of pancreatitis in our CF patients was higher than that found in other CF populations, and was not limited to patients with pancreatic sufficiency. It occurred mostly in teenagers and young adults often with mild pulmonary disease. The CF genotype was variable. The course of the patients should be carefully monitored, and further information on the long-term outcome of larger cohorts of patients is needed.

Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine.

Coeliac disease (CD) development involves genetic (HLA-DQ2/DQ8) and environmental factors. Herein, the influence of the HLA-DQ genotype on the gut colonization process of breast-fed children was determined. A cohort of 20 newborns, with at least one first-degree relative with CD, were classified according to their HLA-DQ genotype into high, intermediate and low genetic risk groups, showing 24-28%, 7-8% and less than 1% probability to develop CD, respectively. Faecal microbiota was analysed at 7 days, 1 and 4 months of children's age by fluorescence in situ hybridization. When considering all data, Gram-negative bacteria and Bacteroides-Prevotella group proportions were higher (P<0.05) in the high than in the intermediate and low genetic risk groups. E. coli, Streptococcus-Lactococcus, E. rectale-C. coccoides, sulphate-reducing bacteria, C. lituseburense and C. histolyticum group proportions were also significantly higher (P<0.05) in the high than in the low genetic risk group. Correlations between these bacterial groups and the genetic risk were also detected (P<0.05). In addition, the number and type of CD relative seemed to influence (P<0.050) these bacterial proportions in children at CD risk. At 4 months of age, similar relationships were established between the high genetic risk to develop CD and the proportions of Streptococcus-Lactococcus (P<0.05), E. rectale-C. coccoides (P<0.05), C. lituseburense (P<0.05), C. histolyticum (P<0.05), Bacteroides-Prevotella (P<0.10) groups and total Gram-negative bacteria (P<0.05). The results suggest a relationship between HLA-DQ genes and the gut microbial colonization process that could lead to a change in the way this disorder is investigated.

[Prevalence of celiac disease in apparently healthy blood donors in the autonomous community of Madrid]. / Prevalencia de la enfermedad celiaca en donantes de sangre de la Comunidad de Madrid.

OBJECTIVE: The aim of this study was to determine the prevalence of celiac disease among the adult population of Madrid by measuring antibodies against tissue transglutaminase as serologic screening method. POPULATION AND METHODS: 2,215 subjects participated voluntarily in this study. All of them completed a clinical questionnaire. We determined the levels of total IgA and antibodies to tissue transglutaminase (tTG). An intestinal biopsy by endoscopy was proposed to all subjects who were tTG-positive. The histologic lesion was classified in accordance to Marsh. RESULTS: Three known CD cases were identified by the questionnaire. Eleven donors with tTG positivity were detected, all of them asymptomatic. Four subjects rejected the intestinal biopsy. Seven out of 11 positive subjects consented to undergo a duodenal biopsy -3 had villous atrophy and 4 had increased intraepithelial lymphocyte counts with normal villi. In our study the number of donors with biopsy-proven CD was 6, and the prevalence was 1/370. If we include the subcategories of gluten sensitive enteropathy (Marsh I), the prevalence would be 1/222. When we considered antibody positivity the prevalence of gluten sensitivity was 1 in 201, and it reached 1 in 158 when the three known CD cases were included. CONCLUSIONS: Data on CD prevalence in this study confirm that CD is a first-line healthcare problem that may warrant universal screening. We detected a high number of lymphocytic enteritis cases, and thus some sort of action is mandatory.

Prevalencia de la enfermedad celiaca en donantes de sangre de la Comunidad de Madrid / Prevalence of celiac disease in apparently healthy blood donors in the Autonomous Community of Madrid

Objetivo: conocer la prevalencia de enfermedad celiaca en la población adulta de la Comunidad de Madrid utilizando como método de despistaje los anticuerpos frente a la transglutaminasa tisular. Población y métodos: han participado de modo voluntario 2.215 donantes de sangre. Todos ellos rellenaron una encuesta. Se determinó la IgA sérica total y los anticuerpos antitransglutaminasa tisular. A los donantes con anticuerpos positivos, se les ofreció la realización de biopsia intestinal por endoscopia. La histología de la mucosa intestinal se graduó según los criterios de Marsh. Resultados: mediante la encuesta se identificaron tres celiacos diagnosticados previamente. Once donantes presentaban anticuerpos positivos, todos ellos asintomáticos. Cuatro rechazaron la biopsia intestinal. De los siete en los que se realizó, tres tenían atrofia vellositaria y cuatro infiltrado linfocitario con vellosidades normales. En nuestro estudio el número total de donantes con enfermedad celiaca confirmada por biopsia fue de seis, lo que supone una prevalencia del 1/370. Considerando el grado I de Marsh, la prevalencia de la enteropatía por gluten sería de 1/222. La respuesta inmunológica anómala al gluten medida por la positividad de los anticuerpos fue de 1/201 que alcanza valores de 1/158 si consideramos los tres celiacos diagnosticados previamente. Conclusiones: los datos de prevalencia hallados en este estudio confirman que la enfermedad celiaca constituye un problema sanitario de primer orden, que podría justificar la instauración de un programa de despistaje universal. Se ha detectado un alto número de casos de enteritis linfocitaria lo que obliga a plantearse la actitud a seguir

Objective: the aim of this study was to determine the prevalence of celiac disease among the adult population of Madrid by measuring antibodies against tissue transglutaminase as serologic screening method. Population and methods: 2,215 subjects participated voluntarily in this study. All of them completed a clinical questionnaire. We determined the levels of total IgA and antibodies to tissue transglutaminase (tTG). An intestinal biopsy by endoscopy was proposed to all subjects who were tTG-positive. The histologic lesion was classified in accordance to Marsh. Results: three known CD cases were identified by the questionnaire. Eleven donors with tTG positivity were detected, all of them asymptomatic. Four subjects rejected the intestinal biopsy. Seven out of 11 positive subjects consented to undergo a duodenal biopsy –3 had villous atrophy and 4 had increased intraepithelial lymphocyte counts with normal villi. In our study the number of donors with biopsy-proven CD was 6, and the prevalence was 1/370. If we include the subcategories of gluten sensitive enteropathy (Marsh I), the prevalence would be 1/222. When we considered antibody positivity the prevalence of gluten sensitivity was 1 in 201, and it reached 1 in 158 when the three known CD cases were included. Conclusions: data on CD prevalence in this study confirm that CD is a first-line healthcare problem that may warrant universal screening. We detected a high number of lymphocytic enteritis cases, and thus some sort of action is mandatory

Estudio genético en la enfermedad celíaca / No disponible

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Litiasis biliar en la infancia: actitudes terapéuticas / Biliary lithiasis in childhood. Therapeutic approaches

Hasta hace pocos años, la litiasis biliar en la infancia se consideraba una enfermedad infrecuente. Según su composición, los cálculos biliares se clasifican en cálculos de colesterol y cálculos de pigmento. Los cálculos de pigmento están formados mayoritariamente por sales cálcicas de bilirrubina no conjugada y se subdividen en negros duros y marrones blandos. En los niños, el 75 por ciento de los cálculos son de pigmento. Con frecuencia, los cálculos en los niños no tienen una causa conocida. La litiasis biliar en el niño presenta peculiaridades diferentes de la del adulto y existe poca literatura médica sobre los procedimientos terapéuticos más idóneos. Los cálculos asintomáticos tienen una evolución benigna y no precisan tratamiento médico ni quirúrgico. Las manifestaciones clínicas de la litiasis suelen ser poco específicas, incluyen molestias como dispepsias o dolores abdominales crónicos por los que los niños son estudiados ecográficamente, encontrándose los cálculos en la vesícula biliar. El tratamiento definitivo de la litiasis es la colecistectomía, pero esto no significa que siempre haya que optar por un tratamiento quirúrgico definitivo. El tratamiento médico con ácido ursodesoxicólico (AUDC) está indicado en las litiasis asintomáticas y oligosintomáticas con cálculos transparentes, blandos, ricos en colesterol y vesícula funcionante y en los casos con alto riesgo quirúrgico (AU)

Trastornos intestinales funcionales (equivalentes del colon irritable) / Functional bowel disorders (equivalent to irritable bowel syndrome)

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Short-term follow-up of the nutritional status of children undergoing autologous peripheral blood stem cell transplantation.

A prospective longitudinal study was conducted to analyze the evolution of the nutritional status of 34 children (12 girls and 22 boys), aged 1.5-15.8 years (median age 9.06), undergoing autologous peripheral blood stem cell transplantation (PBSCT). The nutritional status was evaluated at baseline, days +1 and +7, discharge, and day +30 by dietary or parenteral intake, anthropometric and laboratory measurements, and nitrogen balance. At baseline, changes in anthropometric (53%) and biochemical measurements (83%) are frequent but mild. The mean caloric intake was normal. Children with normal values for the anthropometric parameters all had an intake > 80% (p < .01). No correlation was found between the anthropometric and biochemical parameters. During transplantation, significant changes (p < .001) were found for energy intake, albumin, transferrin, and nitrogen balance. Fibronectin, prealbumin, and retinol-binding protein showed only a few changes. All but prealbumin recovered on day +30. No correlation was found between the nutritional status and toxicity or infection in children undergoing autologus PBSCT. The changes in the nutritional status observed at the start of transplantation correlated with the nutrional intake. Anthropometric and biochemical changes are complementary. The results may be ascribable to the fact that the patients in this series had mild malnutrition.

Consenso de actuación ante determinadas patologías del aparato digestivo en fibrosis quística. Tratamiento de la insuficiencia pancreática exocrina y síndrome de obstrucción del intestino distal / Cystyc fibrosis: treatment of pancreatic insufficiency and distal intestinal obstruction syndrome

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Intestinal alphabeta T cells of symptomatic celiac disease patients show oligoclonal TCRBV repertoire but polyclonal rearrangement patterns.

Celiac disease is an immunological disease provoked by some cereal proteins in HLA-DQ-mediated susceptible individuals. The role of intestine infiltrating alphabeta T cells in the pathogenesis of the disease has been functionally established. In the present report, we have studied the repertoire of TCRBV genes, spectratype distribution, and CDR3 sequences of intestinal T cell populations isolated from three CD patients at diagnosis and two normal control biopsies. Oligoclonal TCRBV usage was observed both in CD and control samples. However, a much more restricted TCRBV usage was evident in normal mucosa. The use of BV gene families was linked to no dominant rearrangements in CD, while apparent oligoclonal patterns were found in normal biopsies. Only 3 out of 73 sequenced transcripts derived from preponderant TCRBV genes in the three celiac samples were obtained twice. In contrast, only 13 different rearrangements were found out of 32 analyzed in control samples. In spite of the polyclonal behavior of T cells in CD mucosa, some conserved motifs in the CDR3 region were noticed among rearrangements derived from different TCRBV genes and patients. The lack of expanded T cell clones in the damaged tissue could be explained in terms of antigen diversity or by non-specific immunological responses in the symptomatic phase of the disease.

Síndrome de Chilaiditi / Chilaiditi's syndrome

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[Special infant formulas]. / Fórmulas infantiles especiales.

INTRODUCTION: Breast feeding is the optimal mode of feeding for the normal fullterm infant. Formulas prepared to substitute total or partially human milk were available by the end of the last century. The composition of infant formulas has evolved greatly, because of the advance of scientific researches, and a large array of formulas for particular circumstances is actually available. OBJECTIVES: The aim of this article is to revise, compare and discuss the special manufactured formulas commercially available. MATERIAL AND METHODS: Record of the data from the manufacturer's advise leaflet or formulary for each product, and the information provided by each manufacturer after being contacted with them. RESULTS: Today there is an ample offer of specific formulas in the market. We present the composition of each specific formulas grouped as: Formulas for premature, modified formulas in its basic constituents and formulas with addition of thickeners. The general characteristics of each group are described, as well as indications and possible risks of their use. CONCLUSIONS: Knowledge of the characteristics of specific formulas is crucial for a correct prescription and choice of the most suitable one for each individual case.

Serum gastrin level and gastric somatostatin content and binding in long-term pyloromyotomized children.

Since somatostatin inhibits basal and stimulated gastric acid secretion and gastrin release, it is conceivable that decreased gastric somatostatin concentration may be one of the factors responsible for gastric hypersecretion found in patients who have undergone long-term pylorotomy for hypertrophic pyloric stenosis. To investigate this proposal the somatostatin-like immunoreactivity concentration was determined in antral and fundic mucosa samples from control and long-term pyloromyotomized children. In addition, somatostatin binding to cytosol from gastric (fundus and antrum) mucosa and fasting serum gastrin levels and serum gastrin response to a standard breakfast were also studied. The mean fundic and antral somatostatin-like immunoreactivity concentrations were significantly lower in long-term pyloromyotomized children than in control children. The depletion of fundic and antral somatostatin-like immunoreactivity content was associated with an increase in the number of gastric somatostatin binding sites. The fasting serum gastrin levels and serum gastrin response to a standard breakfast (after 60 min) in long-term pyloromyotomized children was significantly higher than those in control children. Since, together with the increase of somatostatin binding to gastric mucosa, there is an increase in the gastrin serum levels, despite the inhibitory effect of somatostatin on gastrin release, the binding capacity cannot be the main factor determining the response to somatostatin in long-term pyloromyotomized children. The present results suggest that both somatostatin and gastrin have some pathophysiologic importance in long-term pyloromyotomized children.

[Dermatitis herpetiformis vs. celiac disease]. / Dermatitis herpetiforme versus enfermedad celíaca.

Twenty-nine patients affected with dermatitis herpetiformis (HD), all of whom were on a diet including gluten, were investigated for symptoms of enteropathy. Of these patients, 71% presented severe intestinal lesions, indistinguishable from those found in coeliac disease (CD). However, there were little other clinical manifestations of this finding since only three children in this group had weight and height < or = P3. Of the remaining children, 18% had moderate intestinal atrophy and 10% had normal mucosa or mucosa with negligible changes. When changed to a gluten free diet, the intestinal lesions subsided, dermic lesions disappeared in 17 patients, improved in 8 others and remained the same in the other three patients that were still on variable diets. A study of human leukocyte antigens (HLA) class II showed a total association with Dqw2 and 85% association to DR3, which was identical to the coeliac disease control group. These findings lead one to conclude that HD and CD are different clinical expressions of the same sensitivity to gluten which is associated to an immunological disorder with a common genetic base linked to certain HLA molecules.