Usefulness and description of the intestinal bypass technique in children with short bowel syndrome: report of a Mexican cohort.

BACKGROUND: Short bowel syndrome (SBS) is one of the most frequent causes of intestinal failure, needing parenteral nutrition to maintain an energy-protein and water-electrolyte balance. At the Hospital Infantil de México Federico Gómez (HIMFG), the formation of two stomas is a technique used for intestinal rehabilitation, where the use of residue through the bypass technique (BT) helps to maintain gastrointestinal functionality, water-electrolyte, and nutritional stability. This study aimed to describe the technique of using intestinal residue through BT as a treatment strategy in intestinal rehabilitation and its effect on the biochemical and nutritional status of pediatric patients with SBS. METHODS: An analytical and retrospective cross-sectional study was performed in patients hospitalized at HIMFG with SBS who underwent BT during their hospital stay between 2019 and 2020 and then followed up for 8 weeks. RESULTS: A total of 10 patients were included in this study, with a mean age of 24 months; 50% were female. BT was able to reduce the inflammatory process in the liver caused by the continuous use of parenteral nutrition; enteral caloric intake increased from 25.32 kcal/kg/day to 72.94 kcal/kg/day, but it was insufficient to improve their nutritional status. CONCLUSIONS: BT is a safe and effective alternative in intestinal rehabilitation in patients with SBS to stimulate trophism and intestinal functionality, allowing a progression of enteral feeding and a decrease in the hepatic inflammatory process that occurs in these patients with prolonged parenteral nutrition.

INTRODUCCIÓN: El síndrome de intestino corto (SIC) es una de las causas más frecuentes de insuficiencia intestinal que requiere del uso de nutrición parenteral para mantener un balance energético-proteico e hidroelectrolítico. En el Hospital Infantil de México Federico Gómez (HIMFG) la formación de dos estomas es una técnica empleada para la rehabilitación intestinal, donde con el aprovechamiento de residuo mediante la técnica de puenteo (TP) se ayuda a mantener la funcionalidad gastrointestinal, equilibrio hidro-electrolítico y estabilidad nutricional. El objetivo de este estudio fue describir la técnica del aprovechamiento de residuo intestinal mediante TP como estrategia de tratamiento en la rehabilitación intestinal y su efecto en el estado bioquímico y nutricional de pacientes pediátricos con SIC. MÉTODOS: Se llevó a cabo un estudio transversal analítico y retrospectivo en pacientes hospitalizados en el HIMFG con SIC en quienes se realizó la TP durante su estancia intrahospitalaria entre 2019 y 2020. RESULTADOS: Se incluyeron 10 pacientes en este estudio, con una edad promedio de 24 meses, y el 50% de sexo femenino. La TP logró disminuir el proceso inflamatorio hepático ocasionado por el uso continuo de nutrición parenteral; la ingesta calórica por vía enteral incrementó de 25.32 kcal/kg/día a 72.94 kcal/kg/día, pero fue insuficiente para mejorar el estado nutricional. CONCLUSIONES: La TP es una alternativa segura y efectiva en la rehabilitación intestinal en pacientes con SIC para estimular el trofismo y funcionalidad intestinal, permitiendo una progresión de la alimentación enteral y disminución del proceso inflamatorio hepático que se presentan en estos pacientes con nutrición parenteral prolongada.

Clinical Characteristics and Outcomes of Chagas Disease in the United States: A Multicenter Retrospective Analysis.

Chagas disease affects approximately 300,000 patients in the United States. We evaluated a multicenter U.S.-based network to obtain clinical characteristics and outcomes of chronic Chagas disease by disease forms. This was a U.S.-based, multicenter, population-based, retrospective cohort study. We queried TriNetX, a global research network, to identify patients with dual-positive IgG serology for Trypanosoma cruzi. We captured outcomes of interest for up to 5 years. We found 429 patients with evidence of dual-positive T. cruzi IgG out of 19,831 patients with an available test result from 31 U.S. medical centers. The positive proportion for those tested was 2.2%, up to 4.6% among Hispanics. We found a prevalence of a positive Chagas serology of 0.02% among Hispanics. Cardiomyopathy risk reached an annual rate of 1.3% during the initial 5 years of follow-up among patients with the indeterminate form. We found no new events for pulmonary embolism, sudden death, or left ventricular aneurysms at 5 years. Annual risks for arrhythmias and stroke for chronic Chagas cardiomyopathy (CCC) were 1.6% and 0.8%, respectively. The yearly mortality and hospitalization rates for CCC were 2.7% and 17.1%, respectively. Only 13 patients had a documented antitrypanosomal therapy course within 6 months after diagnosis. Of those receiving treatment, 10 patients received benznidazole and three nifurtimox. Chagas disease screening in patients from endemic areas living in the United States remains crucial. Chronic Chagas cardiomyopathy carries a considerable disease burden, translating into increased morbidity and mortality and an enlarging medical health service utilization.

Gut microbiota composition after a dietary and physical activity intervention: a pilot study in Mexican children with obesity.

BACKGROUND: Gut microbiota is a complex organized collection of microorganisms that confers multiple metabolic advantages to the host. The reduced diversity and proportion of specific gut microbial species have been associated with obesity and metabolic disorders. Multidimensional interventions, including modifications in dietary and physical activity habits, are associated with favorable changes in microbiota composition. This pilot study aimed to evaluate changes in the gut microbiota composition of Mexican children with obesity before and after a 6-week multidimensional intervention. METHODS: Blood and stool samples were collected, and anthropometric measurements were obtained from six children with obesity before and after the intervention. The intervention consisted of modeling a hypo energetic diet and giving nutritional and physical activation recommendations. DNA from stool samples was used to characterize gut microbial composition by sequencing the 16S rRNA gene. RESULTS: The decrease in waist circumference was associated with increased Odoribacter relative abundance. However, gut microbiota composition and diversity remained unchanged. CONCLUSIONS: Although no modifications in the body mass index, body fat, composition, or diversity of the gut microbiota were observed with the intervention, it was possible to associate the reduction in waist circumference with the presence of Odoribacter after a multidimensional intervention in Mexican children with obesity.

INTRODUCCIÓN: La microbiota intestinal es un conjunto de microorganismos organizados de forma compleja que confieren múltiples ventajas metabólicas al hospedero. La reducida diversidad y la proporción de ciertas especies sobre otras se ha asociado con obesidad y enfermedades metabólicas. Las intervenciones multidimensionales, que incluyen modificaciones en los hábitos alimentarios y de actividad física, se asocian con cambios favorables en la composición de la microbiota. El objetivo de este estudio piloto fue evaluar la composición de la microbiota intestinal de niños mexicanos con obesidad, antes y después de una intervención multidimensional de seis semanas de duración. MÉTODOS: Se tomaron muestras de sangre y de heces y se realizaron las mediciones antropométricas de seis niños con obesidad, antes y después de la intervención. La intervención consistió en modelar una dieta hipoenergética y dar recomendaciones nutricias y de actividad física. A partir del DNA de las muestras de heces se realizó la caracterización de la microbiota intestinal por secuenciación del gen 16S del RNAr. RESULTADOS: La disminución de la circunferencia de cintura se asoció con un aumento en la abundancia del género Odoribacter. Sin embargo, no se encontraron cambios en la composición de la microbiota intestinal. CONCLUSIONES: A pesar de que la intervención no modificó el índice de masa corporal, masa grasa, composición ni diversidad de la microbiota intestinal, sí se logró asociar la reducción de la circunferencia de cintura con la abundancia de Odoribacter en el presente estudio piloto en niños mexicanos con obesidad.

Gut microbiota composition after a dietary and physical activity intervention: a pilot study in Mexican children with obesity / Efecto de una intervención nutricia y de actividad física sobre la composición de la microbiota intestinal: un estudio piloto en niños mexicanos con obesidad

Abstract Background: Gut microbiota is a complex organized collection of microorganisms that confers multiple metabolic advantages to the host. The reduced diversity and proportion of specific gut microbial species have been associated with obesity and metabolic disorders. Multidimensional interventions, including modifications in dietary and physical activity habits, are associated with favorable changes in microbiota composition. This pilot study aimed to evaluate changes in the gut microbiota composition of Mexican children with obesity before and after a 6-week multidimensional intervention. Methods: Blood and stool samples were collected, and anthropometric measurements were obtained from six children with obesity before and after the intervention. The intervention consisted of modeling a hypo energetic diet and giving nutritional and physical activation recommendations. DNA from stool samples was used to characterize gut microbial composition by sequencing the 16S rRNA gene. Results: The decrease in waist circumference was associated with increased Odoribacter relative abundance. However, gut microbiota composition and diversity remained unchanged. Conclusions: Although no modifications in the body mass index, body fat, composition, or diversity of the gut microbiota were observed with the intervention, it was possible to associate the reduction in waist circumference with the presence of Odoribacter after a multidimensional intervention in Mexican children with obesity.

Resumen Introducción: La microbiota intestinal es un conjunto de microorganismos organizados de forma compleja que confieren múltiples ventajas metabólicas al hospedero. La reducida diversidad y la proporción de ciertas especies sobre otras se ha asociado con obesidad y enfermedades metabólicas. Las intervenciones multidimensionales, que incluyen modificaciones en los hábitos alimentarios y de actividad física, se asocian con cambios favorables en la composición de la microbiota. El objetivo de este estudio piloto fue evaluar la composición de la microbiota intestinal de niños mexicanos con obesidad, antes y después de una intervención multidimensional de seis semanas de duración. Métodos: Se tomaron muestras de sangre y de heces y se realizaron las mediciones antropométricas de seis niños con obesidad, antes y después de la intervención. La intervención consistió en modelar una dieta hipoenergética y dar recomendaciones nutricias y de actividad física. A partir del DNA de las muestras de heces se realizó la caracterización de la microbiota intestinal por secuenciación del gen 16S del RNAr. Resultados: La disminución de la circunferencia de cintura se asoció con un aumento en la abundancia del género Odoribacter. Sin embargo, no se encontraron cambios en la composición de la microbiota intestinal. Conclusiones: A pesar de que la intervención no modificó el índice de masa corporal, masa grasa, composición ni diversidad de la microbiota intestinal, sí se logró asociar la reducción de la circunferencia de cintura con la abundancia de Odoribacter en el presente estudio piloto en niños mexicanos con obesidad.

Volviéndonos mejores: necesidad de acción inmediata ante el reto de la obesidad. Una postura de profesionales de la salud.

La creciente epidemia de obesidad ha sido uno de los retos más importantes de salud pública en México durante los últimos años. Con apoyo de la Federación Mundial de Obesidad, en 2021 formamos un grupo de profesionales para identificar y resumir las acciones prioritarias en las que puede enfocarse nuestro país para hacer frente a esta epidemia. Al proceso de desarrollo y discusión de este grupo se sumaron más de 1 000 profesionales de la salud para retomar recomendaciones de documentos y guías de alto nivel previamente publicados. En conmemoración del Día Mundial de la Obesidad, en este 2022 se presenta esta postura como insumo para el desarrollo de acciones en el ámbito profesional y de los diferentes sectores, en la que se incluyen 10 recomendaciones de acción, desde la perspectiva poblacional hasta la atención individualizada, y se enfatiza en la importancia de la participación social, de las intervenciones integrales con visión centrada en la persona y de la sostenibilidad planetaria, además de mejorar la educación y las campañas de difusión, propiciar un ambiente promotor de entornos activos y blindar de conflictos de interés los esfuerzos de prevención y control. La postura hace un llamado para abordar la obesidad de manera seria, con base en la evidencia científica, oportuna e integral, con enfoque de curso de vida, de forma ética y sensible, y sin perpetuar las barreras del estigma de peso en la sociedad.

Volviéndonos mejores: necesidad de acción inmediata ante el reto de la obesidad. Una postura de profesionales de la salud / Becoming better: the need for immediate action to address obesity. A position statement from health professionals

resumen está disponible en el texto completo

Abstract: In recent decades, the growing obesity epidemic in Mexico has become one of the most important public health challenges faced by the country. With support from the World Obesity Federation, we formed a working group in 2021 to identify and summarize priority actions that Mexico can take to face this epidemic. More than 1 000 health professionals joined the development and discussion process. Recommendations from previously published, high-level documents and guidelines were taken into account. In commemoration of World Obesity Day 2022, this statement is presented as input for health care professionals to develop actions to address obesity. The statement includes 10 recommendations that include population-level and individual-level actions. It emphasizes the importance of social participation, comprehensive interventions with a person- centered perspective, planetary sustainability, on improving education and communication campaigns, as well as fostering a built environment that promotes active living, and shielding prevention and control efforts from conflicts of interest. The statement calls for obesity to be treated seriously, based on scientific evidence, in a timely and comprehensive manner, employing a life-course and ethical approach that does not perpetuate weight stigma in society.

Retinol-binding protein 4 and plasminogen activator inhibitor-1 as potential prognostic biomarkers of non-allergic asthma caused by obesity in adolescents.

BACKGROUND: Non-allergic asthma caused by obesity is a complication of the low-grade chronic inflammation inherent in obesity. Consequently, the serum concentrations of adipokines such as retinol-binding protein 4 (RBP4) and plasminogen activator inhibitor-1 (PAI-1) increase. No gold standard molecule for the prediction of non-allergic asthma among obese patients has been identified. OBJECTIVE: To evaluate RBP4 and PAI-1 as prognostic biomarkers of non-allergic asthma caused by obesity. METHODS: A cross-sectional study between four groups of adolescents: (1) healthy (n = 35), (2) allergic asthma without obesity (n = 28), (3) obesity without asthma (n = 33), and (4) non-allergic asthma with obesity (n = 18). RESULTS: RBP4 was higher in the non-allergic asthma with obesity group than in the obesity without asthma group (39.2 ng/mL [95% confidence interval (CI): 23.8-76.0] vs. 23.5 ng/mL [95% CI: 3.2-33.5], p < 0.01), and PAI-1 was higher in the non-allergic asthma with obesity group than in the obesity without asthma group (21.9 ng/mL [95% CI: 15.7-26.5] vs. 15.9 ng/mL [95% CI: 9.4-18.2], p < 0.05). Receiver operating characteristic (ROC) curve analysis demonstrated that the serum RBP4 cut-off value was >42.78 ng/mL, with an area under the ROC curve (AUC) of 0.741 (95% CI: 0.599-0.853, p = 0.001), considered acceptable. The PAI-1 cut-off value was >12.0 ng/mL, with an AUC of 0.699 (95% CI: 0.554-0.819, p = 0.008), considered fair. CONCLUSIONS: RBP4 may be useful to predict non-allergic asthma among obese adolescents in clinical practice.

Dietary habits and metabolic response improve in obese children whose mothers received an intervention to promote healthy eating: randomized clinical trial.

BACKGROUND: Lifestyles habits such as eating unhealthy foodscommence at home and are associated with the development of obesity and comorbidities such as insulin resistance, metabolic syndrome, and chronic degenerative diseases, which are the main causes of death in adults. The present study compared changes in dietary habits, behaviors and metabolic profiles of obese children whose mothers attended at the hospital to group sessions, with those who received the usual nutritional consultation. METHODS: Randomized clinical trial, 177 mother/obese child pairs participated, 90 in the intervention group and 87 in the control group. The intervention group attended six group education sessions to promote healthy eating, being this an alternative of change of habits in children with obesity. The control group received the usual nutritional consultation; both groups were followed up for 3 months. Frequency of food consumption, behaviors during feeding in the house and metabolic profile was evaluated. Mixed effect linear regression models were used to evaluate the effect of the intervention on the variables of interest, especially in HOMA-IR. RESULTS: The intervention group reduced the filling of their dishes (p = 0.009), forcing the children to finish meals (p = 0.003) and food substitution (p <  0.001), moreover increased the consumption of roasted foods (p = 0.046), fruits (p = 0.002) and vegetables (p <  0.001). The children in the control group slightly increased HOMA-IR levels (0.51; 95% CI - 0.48 to 1.50), while the children in the intervention group significantly decreased (- 1.22; 95% CI - 2.28 to - 1.16). The difference in HOMA-IR between the control and intervention group at the end of the follow-up was - 1.67; 95% CI: - 3.11 to - 0.24. CONCLUSIONS: The educational intervention improved some eating habits at home, as well as HOMA-IR levels; why we consider that it can be an extra resource in the management of childhood obesity. TRIAL REGISTRATION: Clinicaltrials.gov, NCT04374292 (Date assigned: May 5, 2020). Retrospectively registered.

Feeding Patterns of Infants and Toddlers: The Mexico Case Study.

Understanding the feeding patterns of Mexican infants and toddlers has required large efforts due to the lack of recent reliable data. The double burden of obesity and micronutrient undernutrition is a public health problem in Mexico. This chapter reviews a series of papers reporting the FITS (Feeding Infants and Toddlers Study) Mexico effort. Secondary data analyses from a nationally representative sample of over 5,000 children from the Mexican National Nutrition and Health Study 2012 ENSANUT (Encuesta Nacional de Salud y Nutrición) were used to review the feeding and drinking patterns of Mexican infants and young children. Feeding patterns in Mexican children are established early in life. Low rates of exclusive breastfeeding were found in infants under 6 months of age. Only half of 6- to 47.9-month-old children consumed fruits, and 80% did not consume any vegetables (including potatoes) on the day of the survey. From the age of 12 months, more than 80% consumed sweets or sweetened beverages on any given day. For nutrients, 61% of infants 6-11.9 months old did not meet the estimated average requirement for iron, indicating a nutritional risk. High intakes of food groups with poor micronutrient and high energy levels might explain the nutritional condition for the Mexican population. Mexican experts have used this information to make recommendations and establish complementary feeding guidelines for healthy infants. Public policy and practice must now change accordingly.

Many Infants and Young Children Are Not Compliant with Mexican and International Complementary Feeding Recommendations for Milk and Other Beverages.

Mexican and international authorities provide guidelines for milk and beverage consumption for young children. This study classifies beverages as appropriate or inappropriate by age (0-5.9, 6-11.9, and 12-23.9 months) and details consumption patterns, amounts consumed, and the associated socio-demographic characteristics. Analysis of the Mexican National Nutrition and Health Survey (ENSANUT 2012) was conducted (n = 949). Among 0-5.9 month olds, 66.7% consumed either breast milk, infant formula, or a combination with no other beverages, whereas 29.3% consumed breast milk and/or infant formula with water (mean = 58 g/day) and/or other beverages (mean = 115 g/day), such as 100% fruit juice, milk, and sugar-sweetened beverages (SSBs). For infants 6-11.9 months, appropriate beverages include breast milk, infant formula, and water; only 40.2% met these recommendations. Many 6-11.9 month olds consumed age-inappropriate beverages, including milk (31%) and SSBs (35%). After 12 months of age, appropriate beverages include water, milk, and a limited amount of 100% fruit juice and SSBs; 32.4% complied fully, 18.3% consumed appropriate and inappropriate beverages, and 49.3% consumed only inappropriate beverages. Among 12-23.9 month olds, 58% consumed milk, 18% juice, and 42% water while 63% consumed SSBs. Many infants and young children are not compliant with Mexican and international breastfeeding and complementary feeding guidelines for beverages. Communication and guidance about age-appropriate beverages should be improved.

Food Sources of Energy and Nutrients in Infants, Toddlers, and Young Children from the Mexican National Health and Nutrition Survey 2012.

Food sources of nutrients in Mexican children are not well known. To fill the knowledge gap, dietary intake was assessed in 2057 children using a 24-hour dietary recall. All reported foods and beverages were assigned to one of 76 food groups. Percent contribution of each food group to nutrient intake was estimated for four age groups: 0-5.9, 6-11.9, 12-23.9, and 24-47.9 months. Breast milk, infant formula, and cow's milk were the top sources of energy and nutrients, especially in younger groups. Among infants aged 6-11.9 months, the top food sources of energy included soups and stews, cookies, fruit, tortillas, eggs and egg dishes, and traditional beverages. The same foods plus sweetened breads, dried beans, and sandwiches and tortas were consumed as the top sources of energy among toddlers and young children. Milk, soups, and stews were the top contributors for all nutrients and tortillas, eggs, and egg dishes were among the top contributors for iron and zinc. This study showed that low nutrient-dense cookies, sweetened breads, and traditional beverages were among the core foods consumed early in life in Mexico. This compromises the intake of more nutritious foods such as vegetables and fortified cereals and increases the risk of obesity.

Consenso para las prácticas de alimentación complementaria en lactantes sanos / Guidelines for complementary feeding in healthy infants

Resumen: La nutrición adecuada durante los primeros dos años de vida es fundamental para el desarrollo pleno del potencial de cada ser humano; actualmente se reconoce que este periodo es una ventana crítica para la promoción de un crecimiento y desarrollo óptimos y un buen estado de salud. Por tanto, cumplir con una alimentación adecuada en esta etapa de la vida tiene impacto sobre la salud, estado de nutrición, crecimiento y desarrollo de los niños; no sólo en el corto plazo, sino en el mediano y largo plazo. El presente trabajo ofrece recomendaciones de alimentación complementaria (AC) que se presentan en forma de preguntas o enunciados que consideran temas importantes para quienes atienden niños durante esta etapa de la vida; por ejemplo: inicio de la alimentación complementaria a los 4 o 6 meses de edad; exposición a alimentos potencialmente alergénicos; introducción de bebidas azucaradas; uso de edulcorantes artificiales y productos light; secuencia de introducción de alimentos; modificaciones de consistencia de alimentos de acuerdo a la maduración neurológica; número de días para probar aceptación y tolerancia a los alimentos nuevos; cantidades por cada tiempo de comida; prácticas inadecuadas de alimentación complementaria; mitos y realidades de la alimentación complementaria; hitos del desarrollo; práctica del "Baby Led Weaning" y práctica de vegetarianismo.

Abstract: A proper nutrition during the first two years of life is critical to reach the full potential of every human being; now, this period is recognized as a critical window for promoting optimal growth, development, and good health. Therefore, adequate feeding at this stage of life has an impact on health, nutritional status, growth and development of children; not only in the short term, but in the medium and long term. This paper provides recommendations on complementary feeding (CF) presented as questions or statements that are important for those who take care for children during this stage of life. For example: When to start complementary feedings: 4 or 6 months of age?; Exposure to potentially allergenic foods; Introduction of sweetened beverages; Use of artificial sweeteners and light products; Food introduction sequence; Food consistency changes according to neurological maturation; Number of days to test acceptance and tolerance to new foods; Amounts for each meal; Inadequate complementary feeding practices; Myths and realities of complementary feeding; Developmental milestones; Practice of "Baby Led Weaning" and practice of vegetarianism.

[Guidelines for complementary feeding in healthy infants]. / Consenso para las prácticas de alimentación complementaria en lactantes sanos.

A proper nutrition during the first two years of life is critical to reach the full potential of every human being; now, this period is recognized as a critical window for promoting optimal growth, development, and good health. Therefore, adequate feeding at this stage of life has an impact on health, nutritional status, growth and development of children; not only in the short term, but in the medium and long term. This paper provides recommendations on complementary feeding (CF) presented as questions or statements that are important for those who take care for children during this stage of life. For example: When to start complementary feedings: 4 or 6 months of age?; Exposure to potentially allergenic foods; Introduction of sweetened beverages; Use of artificial sweeteners and light products; Food introduction sequence; Food consistency changes according to neurological maturation; Number of days to test acceptance and tolerance to new foods; Amounts for each meal; Inadequate complementary feeding practices; Myths and realities of complementary feeding; Developmental milestones; Practice of "Baby Led Weaning" and practice of vegetarianism.

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.

Congenital chloride diarrhea is an autosomal recessive disease caused by mutations in the intestinal lumenal membrane Cl(-)/HCO(-) 3 exchanger, SLC26A3. We report here the novel SLC26A3 mutation G393W in a Mexican child, the first such report in a patient from Central America. SLC26A3 G393W expression in Xenopus oocytes exhibits a mild hypomorphic phenotype, with normal surface expression and moderately reduced anion transport function. However, expression of HA-SLC26A3 in HEK-293 cells reveals intracellular retention and greatly decreased steady-state levels of the mutant polypeptide, in contrast to peripheral membrane expression of the wildtype protein. Whereas wildtype HA-SLC26A3 is apically localized in polarized monolayers of filter-grown MDCK cells and Caco2 cells, mutant HA-SLC26A3 G393W exhibits decreased total polypeptide abundance, with reduced or absent surface expression and sparse punctate (or absent) intracellular distribution. The WT protein is similarly localized in LLC-PK1 cells, but the mutant fails to accumulate to detectable levels. We conclude that the chloride-losing diarrhea phenotype associated with homozygous expression of SLC26A3 G393W likely reflects lack of apical surface expression in enterocytes, secondary to combined abnormalities in polypeptide trafficking and stability. Future progress in development of general or target-specific folding chaperonins and correctors may hold promise for pharmacological rescue of this and similar genetic defects in membrane protein targeting.

Manifestaciones dermatológicas del síndrome de Alagille / Dermatologic manifestations of Alagille syndrome

El síndrome de Alagille (ALGS1; MIM118450) es la causa de una gran parte de las colestasis de origen congénito. Se trata de una enfermedad multisistémica con un patrón de herencia autosómico dominante y manifestaciones clínicas variables. Está conformado por los criterios clásicos de colestasis, defectos cardiacos, anormalidades óseas, oculares y rasgos faciales característicos. Se ha asociado a mutaciones del gen JAG1, con locus en 20p12.2. Existe una segunda forma del síndrome de Alagille (ALGS2; MIM610205) causada por mutaciones en el gen NOTCH2, con locus en 1p13-p11. El diagnóstico puede ser difícil de establecer ya que no todos los pacientes muestran un cuadro clásico en forma temprana, por lo que aumenta la morbilidad del padecimiento. En esta revisión se proponen herramientas clínicas para sospechar de este síndrome y abordarlo de manera precoz.

Alagille syndrome (MIM #118450) causes the majority of cases of congenital cholestasis. It is an autosomal dominant multisystem disorder associated with several different clinical manifestations including the core criteria of cholestasis, cardiac defects, skeletal abnormalities, and eye and facial features. This condition is caused by mutations in the JAG 1 gene on chromosome 20p12. It is known a second form of Alagille syndrome that is caused by mutations in the NOTCH gene on 1p13-p11 (MIM #610205). Diagnosis is often delayed because only few patients show a classical picture in the early stages of the disease, causing an increase in morbidity. This review suggests clinical tools for early suspicion and management.