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1.
Arch Argent Pediatr ; : e202410404, 2024 Jun 13.
Artículo en Español | MEDLINE | ID: mdl-38856666

RESUMEN

The treatment of cow's milk protein allergy is based on the complete elimination of cow's milk protein from the diet. To achieve remission of symptoms and future tolerance, exclusion must be total. In formula fed infants the extensively hydrolysed formula is the most appropriate option in mild or moderate forms, while those based on amino acids are reserved for the most severe cases. The treatment time, the acquisition of tolerance and the moment for the oral provocation test will vary according to the clinical picture, the immunological mechanism involved and the age of the patient. The aim of this consensus has been to reflect the updated knowledge together with the experience of neonatologists, pediatricians, experts in allergy, nutrition and gastroenterology.


El tratamiento de la alergia a las proteínas de la leche de vaca se basa en la eliminación completa de las proteínas de leche de vaca de la dieta del niño y de la madre en los que reciben leche materna. Para lograr la remisión de los síntomas y la tolerancia futura, la exclusión debe ser total. En los niños que reciben fórmula, esta deberá tener hidrolizado extenso de proteínas en las formas leves o moderadas, mientras que aquellas a base de aminoácidos se reservan para los casos más graves. El tiempo de tratamiento, la adquisición de tolerancia y el momento para la prueba de provocación oral van a variar según el cuadro clínico, el mecanismo inmunológico implicado y la edad del paciente. El objetivo de este consenso ha sido reflejar el conocimiento actualizado junto con la experiencia de neonatólogos, pediatras, especialistas en alergia, nutrición y gastroenterología.

2.
Arch Argent Pediatr ; 122(4): e202410403, 2024 Aug 01.
Artículo en Español | MEDLINE | ID: mdl-38857102

RESUMEN

Cow's milk protein can cause food allergy. The different mechanisms of action involved, the clinical variability depending on the stage of pediatric life in which it manifests, leads to difficulties in its approach, with the risk of under- or over-diagnosis. Professionals from various areas intervene in this process and their interaction is recommended. That is why the objective of this consensus has been to reflect the updated knowledge in an interdisciplinary mode, generating recommendations for its correct diagnosis. We have worked with the Delphi method to add to the scientific evidence, the experience from neonatologists, pediatricians, experts in allergy, nutrition and gastroenterology. We think that this interdisciplinary approach will be of practical use and will promote more comprehensive care for these patients.


Las proteínas de la leche de vaca pueden causar alergia alimentaria. Los distintos mecanismos de acción involucrados y la variabilidad clínica según la etapa de la vida pediátrica en la que se manifieste ocasionan dificultades en su abordaje, con riesgo de sub- o sobrediagnóstico. En este proceso, intervienen profesionales de diversas áreas y es recomendable su interacción. Es por ello que el objetivo de este consenso ha sido reflejar el conocimiento actualizado desde la interdisciplina, generando recomendaciones para su correcto diagnóstico. Hemos trabajado con el método de Delphi para sumarle a la evidencia científica, la experiencia proveniente de neonatólogos, pediatras, especialistas en alergia, nutrición y gastroenterología. Pensamos que este enfoque interdisciplinario de trabajo va a resultar de utilidad práctica y promoverá una atención más integral de estos pacientes.


Asunto(s)
Hipersensibilidad a la Leche , Niño , Humanos , Lactante , Recién Nacido , Consenso , Técnica Delphi , Hipersensibilidad a la Leche/diagnóstico
3.
Indian J Gastroenterol ; 43(1): 199-207, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37610564

RESUMEN

BACKGROUND: Conventional therapy can result in remission in mild-moderate pediatric Crohn's disease (CD). However, some patients experience loss of response to biological drugs despite increased dosage. METHODS: We planned to determine that CD exclusion diet plus partial enteral nutrition offers additional benefits in asymptomatic children with CD having elevated fecal calprotectin. A randomized, open-label, pilot, controlled interventional study was conducted in children with CD while on medical treatment and elevated fecal calprotectin on routine testing. Patients continued their medications and were randomized into a group that received CD exclusion diet plus partial enteral nutrition for 12 weeks and one that continued a regular diet. RESULTS: Twenty-one patients participated: 11 received CD exclusion diet plus partial enteral nutrition and 10, regular diet. Median fecal calprotectin in the CD exclusion diet plus partial enteral nutrition decreased in 9/11 to 50% of baseline, remaining practically unchanged in the regular diet, except for two patients (p = 0.005). Body mass index z-score increased in the CD exclusion diet plus partial enteral nutrition. Only 1/11 patients in the CD exclusion diet plus partial enteral nutrition group, while 4/10 in the regular diet, experienced clinical relapse (p = 0.149). Only one patient in the CD exclusion diet plus partial enteral nutrition, while eight in the regular diet, were considered to need their biologic treatment intensified (p = 0.005); 2/11 in the CD exclusion diet plus partial enteral nutrition had the dose or frequency of the biologic reduced vs. none (0/10) in the regular diet group. The short Pediatric Crohn's Disease Activity Index and anthropometry showed no significant changes in either group. CONCLUSIONS: Diet therapy could be a useful addition to medications in children with CD in apparent remission, but elevated fecal calprotectin. TRIAL REGISTRATION: Clinical trial number: NCT05034458.


Asunto(s)
Productos Biológicos , Enfermedad de Crohn , Humanos , Niño , Enfermedad de Crohn/terapia , Nutrición Enteral , Proyectos Piloto , Inducción de Remisión , Dieta , Complejo de Antígeno L1 de Leucocito
4.
Medicina (B.Aires) ; 83(1): 114-121, abr. 2023. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1430780

RESUMEN

Resumen El síndrome de intestino corto es una entidad de baja incidencia en los pacientes pediátricos, pero se asocia con elevadas tasas de morbimortalidad. El abordaje de estos pacientes por un equipo interdisciplinario de expertos enfocados en la rehabilitación intestinal mejora los resultados a corto y a largo plazo. Entre los recursos disponibles para el tratamiento se incluye el teduglutide, un análogo del péptido similar al glucagón tipo 2 (GLP-2) elaborado mediante técnicas recombinantes. Por medio de la aplicación del método Delphi, a partir de la evidencia disponible y de la experiencia de los autores, se proponen recomendaciones para el uso de teduglutide, dirigidas a los profesionales de la salud que tratan a los pacientes pediátricos con síndrome de intestino corto, así como a las autoridades sanitarias.


Abstract Short bowel syndrome is a low-incidence disorder among pediatric patients, but it is associated with high morbidity and mortality rates. Management of these patients by an interdisciplinary team of experts focused on intestinal rehabilitation improves short- and long-term outcomes. Available resources for treatment include teduglutide, a glucagon-like peptide type 2 (GLP-2) analog made by recombinant techniques. Considering the available evi dence and the authors' experience, Delphi-based recommendations for the use of teduglutide are suggested for healthcare professionals who treat pediatric patients with short bowel syndrome, as well as for health authorities.

5.
Medicina (B Aires) ; 83(1): 114-121, 2023.
Artículo en Español | MEDLINE | ID: mdl-36774605

RESUMEN

Short bowel syndrome is a low-incidence disorder among pediatric patients, but it is associated with high morbidity and mortality rates. Management of these patients by an interdisciplinary team of experts focused on intestinal rehabilitation improves short- and long-term outcomes. Available resources for treatment include teduglutide, a glucagon-like peptide type 2 (GLP-2) analog made by recombinant techniques. Considering the available evidence and the authors' experience, Delphi-based recommendations for the use of teduglutide are suggested for healthcare professionals who treat pediatric patients with short bowel syndrome, as well as for health authorities.


El síndrome de intestino corto es una entidad de baja incidencia en los pacientes pediátricos, pero se asocia con elevadas tasas de morbimortalidad. El abordaje de estos pacientes por un equipo interdisciplinario de expertos enfocados en la rehabilitación intestinal mejora los resultados a corto y a largo plazo. Entre los recursos disponibles para el tratamiento se incluye el teduglutide, un análogo del péptido similar al glucagón tipo 2 (GLP-2) elaborado mediante técnicas recombinantes. Por medio de la aplicación del método Delphi, a partir de la evidencia disponible y de la experiencia de los autores, se proponen recomendaciones para el uso de teduglutide, dirigidas a los profesionales de la salud que tratan a los pacientes pediátricos con síndrome de intestino corto, así como a las autoridades sanitarias.


Asunto(s)
Péptidos Similares al Glucagón , Síndrome del Intestino Corto , Niño , Humanos , Péptido 2 Similar al Glucagón/efectos adversos , Péptidos/uso terapéutico , Síndrome del Intestino Corto/tratamiento farmacológico , Péptidos Similares al Glucagón/análogos & derivados
6.
Pediatr Gastroenterol Hepatol Nutr ; 25(3): 218-227, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35611373

RESUMEN

Purpose: To analyze the characteristics of pediatric inflammatory bowel disease (IBD) over the past three decades in Argentina and determine if there are differences between the first two decades and the past decade. Methods: We conducted a retrospective multicenter analytical study in children with IBD between 0 and 18 years of age diagnosed between 1987 and 2017 in three tertiary health centers in Argentina. The evaluation included clinical characterization, endoscopy, histology, and imaging data together with therapeutic strategies. The patients were divided into two groups: Group 1, diagnosed between 1987 and 2007, and Group 2, diagnosed between 2008 and 2017. Results: Of the 756 patients included, 409 (54%) had ulcerative colitis (UC), 250 (33%) had Crohn's disease (CD), and 97 (13%) had IBD-unclassified (IBD-U). The positive family history was 3.8%, which was more frequent among children under two years of age (6.7%). There were no significant differences in clinical presentation and extraintestinal manifestations between periods, with hepatic manifestations being the most frequent. In the last decade, we found an upward trend in CD, a downward trend in UC/IBD-U, even after adjustment for socioeconomic status, and a decrease of 50% in surgical treatments coinciding with the advent of biological therapy. Conclusion: This is the first multicenter cohort study in a Latin American country to describe clinical, endoscopic, and therapeutic data across the past 30-year period. Although CD was responsible for the overall increase in incidence, UC was still prevalent in this region.

7.
JPGN Rep ; 3(3): e211, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37168643

RESUMEN

To describe the behavior and characteristics of children with diagnosis of graft versus host disease (GVHD) with liver-intestinal involvement. Methods: Retrospective cohort study of pediatric patients with history of hematopoietic stem cell transplantation for diagnosis of GVHD with gastrointestinal (GI) or liver involvement, from 2 pediatric centers. Results: Between 2007 and 2017, 57 pediatric patients presented with liver or intestinal GVHD; 74% with GI GVHD, 11% with liver GVHD, and 15% with liver-intestinal involvement. Diarrhea (96%) and abdominal pain (55%) were the most frequent symptoms. Endoscopies were performed in 88%, and 35% required a second procedure to confirm diagnosis. Normal-appearing mucosa was observed in 17% of upper GI endoscopies and in 29% of colonoscopies. Endoscopic pathological findings were observed mainly in colon (62%). There was greater severity on colonoscopic classification in those with liver-intestinal compromise than in those with GI compromise only. Overall mortality was 26%. Conclusion: GI and liver GVHD diagnosis may present serious complications. GI involvement tends to manifest early, so it is appropriate to suspect it in the first days after transplantation, unlike liver involvement, which occurs late when other organs are involved. We did not observe a direct relationship between endoscopic and histological classification. Both GI and liver involvement in GVHD could predict greater target organ involvement.

8.
Arch Argent Pediatr ; 119(5): e441-e472, 2021 10.
Artículo en Español | MEDLINE | ID: mdl-34569746

RESUMEN

Intestinal failure secondary to short bowel syndrome in pediatrics, is a rare condition with high morbimortality. A follow up multidisciplinary team is necessary to minimize complications and optimize the intestinal rehabilitation. There are no gold standard guidelines for the management of this group of complex patients. The development of clinical guidelines may contribute for an adequate management of patients with intestinal failure and short bowel syndrome. This Clinical Guideline for the Management was developed by 16 experts based on modified Delphi methodology. The meetings were held at the Argentinian Association of Enteral and Parenteral Nutrition (Asociación Argentina de Nutrición Enteral y Parenteral); the topics analyzed were definitions, epidemiology, enteral and parenteral nutrition, pharmacological and surgical treatments, and criteria for referring patients to intestinal rehabilitation centers. The document is aimed to provide basic scientific knowledge for medical institutions, health providers, healthcare providers, patients and families.


La falla intestinal secundaria a síndrome de intestino corto en pediatría es una entidad poco frecuente, de alta morbimortalidad. Requiere de un equipo interdisciplinario para su abordaje, lo cual ha demostrado que disminuye la morbimortalidad y aumenta la posibilidad de que los pacientes logren la autonomía intestinal. Existe una falta de evidencia científica en diferentes abordajes de la patología. Consideramos necesario el desarrollo de esta Guía para el Manejo Clínico construida sobre la base de la metodología Delphi modificada, en la Asociación Argentina de Nutrición Enteral y Parenteral, por 16 expertos que se reunieron para discutir y consensuar los principales aspectos de tratamiento clínico. Se analizaron 4 aspectos: definiciones y epidemiología; nutrición enteral, nutrición parenteral; tratamientos farmacológicos y quirúrgicos, y criterios de derivación a centros de alta complejidad. Sin duda este documento será de utilidad para los pacientes, los profesionales y las instituciones, así como para los diferentes financiadores del sistema de salud.


Asunto(s)
Pediatría , Síndrome del Intestino Corto , Niño , Humanos , Intestino Delgado , Intestinos , Nutrición Parenteral , Síndrome del Intestino Corto/complicaciones , Síndrome del Intestino Corto/terapia
9.
Arch Argent Pediatr ; 119(5): e513-e517, 2021 10.
Artículo en Español | MEDLINE | ID: mdl-34569753

RESUMEN

Graft versus host disease is a serious complication that occurs following bone marrow transplant with significant morbidity and mortality. The gold standard to diagnose gastrointestinal graft versus host disease is upper and lower gastrointestinal endoscopy with histological validation. The development of intramural duodenal hematoma is a rare complication associated with this procedure. We present two cases of intramural duodenal haematoma after duodenal biopsies in bone marrow transplant patients that presented clinically with severe abdominal pain and intestinal bleeding. In both cases, CT scans confirmed the diagnosis and they were treated conservatively with favorable outcomes. Final diagnosis of gastrointestinal graft versus host disease was based on the colonic samples with normal duodenal histoarchitecture, which could lead to avoiding duodenal samples in future patients in order to prevent this serious complication and thus diminish morbidity.


La enfermedad de injerto contra huésped es una complicación grave que se presenta después del trasplante de médula ósea, con morbilidad y mortalidad elevadas. El patrón de oro para evaluar su compromiso gastrointestinal es la endoscopia digestiva alta y baja con toma de biopsia. El desarrollo de hematoma duodenal intramural es una complicación poco frecuente asociada con este procedimiento. Se presentan dos casos de hematoma duodenal intramural posendoscopia en pacientes con trasplante y sospecha de enfermedad injerto contra huésped que presentaron un cuadro agudo de dolor abdominal y sangrado intestinal. El diagnóstico se realizó por tomografía y recibieron tratamiento conservador, con un resultado favorable. En ambos casos, el diagnóstico de enfermedad injerto contra huésped gastrointestinal se hizo a través de las biopsias colónicas con histología duodenal normal, lo que sugiere evitar la toma de muestras duodenales para prevenir esta grave complicación en pacientes de alto riesgo y, de este modo, disminuir la morbilidad.


Asunto(s)
Enfermedades Duodenales , Enfermedad Injerto contra Huésped , Niño , Enfermedades Duodenales/diagnóstico , Enfermedades Duodenales/etiología , Endoscopía Gastrointestinal , Hemorragia Gastrointestinal , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/etiología , Hematoma/diagnóstico , Hematoma/etiología , Humanos
10.
Nutrients ; 13(8)2021 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-34444914

RESUMEN

There is little data on the experience of managing pediatric Intestinal Failure (IF) in Latin America. This study aimed to identify and describe the current organization and practices of the IF teams in Latin America and the Caribbean. An online survey was sent to inquire about the existence of IF teams that managed children on home parenteral nutrition (HPN). Our questionnaire was based on a previously published European study with a similar goal. Twenty-four centers with pediatric IF teams in eight countries completed the survey, representing a total number of 316 children on HPN. The median number of children on parenteral nutrition (PN) at home per team was 5.5 (range 1-50). Teams consisted of the following members: pediatric gastroenterologist and a pediatric surgeon in all teams, dietician (95.8%), nurse (91.7%), social worker (79.2%), pharmacist (70.8%), oral therapist (62.5%), psychologist (58.3%), and physiotherapist (45.8%). The majority of the centers followed international standards of care on vascular access, parenteral and enteral nutrition, and IF medical and surgical management, but a significant percentage reported inability to monitor micronutrients, like vitamins A (37.5%), E (41.7%), B1 (66.7%), B2 (62.5%), B6 (62.5%), active B12 (58.3%); and trace elements-including zinc (29.2%), aluminum (75%), copper (37.5%), chromium (58.3%), selenium (58.3%), and manganese (58.3%). Conclusion: There is wide variation in how IF teams are structured in Latin America-while many countries have well-established Intestinal rehabilitation programs, a few do not follow international standards. Many countries did not report having an IF team managing pediatric patients on HPN.


Asunto(s)
Gastroenterología/estadística & datos numéricos , Enfermedades Intestinales/terapia , Grupo de Atención al Paciente/estadística & datos numéricos , Pediatría/estadística & datos numéricos , Pautas de la Práctica en Medicina/estadística & datos numéricos , Adolescente , Región del Caribe , Niño , Preescolar , Femenino , Gastroenterología/métodos , Humanos , Lactante , Recién Nacido , América Latina , Masculino , Nutrición Parenteral en el Domicilio/estadística & datos numéricos , Pediatría/métodos , Encuestas y Cuestionarios
11.
Arch. argent. pediatr ; 119(5): e441-e472, oct. 2021. tab, ilus
Artículo en Español | LILACS, BINACIS | ID: biblio-1292123

RESUMEN

La falla intestinal secundaria a síndrome de intestino corto en pediatría es una entidad poco frecuente, de alta morbimortalidad. Requiere de un equipo interdisciplinario para su abordaje, lo cual ha demostrado que disminuye la morbimortalidad y aumenta la posibilidad de que los pacientes logren la autonomía intestinal. Existe una falta de evidencia científica en diferentes abordajes de la patología. Consideramos necesario el desarrollo de esta Guía para el Manejo Clínico construida sobre la base de la metodología Delphi modificada, en la Asociación Argentina de Nutrición Enteral y Parenteral, por 16 expertos que se reunieron para discutir y consensuar los principales aspectos de tratamiento clínico. Se analizaron 4 aspectos: definiciones y epidemiología; nutrición enteral, nutrición parenteral; tratamientos farmacológicos y quirúrgicos,y criterios de derivación a centros de alta complejidad. Sin duda este documento será de utilidad para los pacientes, los profesionales y las instituciones, así como para los diferentes financiadores del sistema de salud.


Intestinal failure secondary to short bowel syndrome in pediatrics, is a rare condition with high morbimortality. A follow up multidisciplinary team is necessary to minimize complications and optimize the intestinal rehabilitation. There are no gold standard guidelines for the management of this group of complex patients. The development of clinical guidelines may contribute for an adequate management of patients with intestinal failure and short bowel syndrome. This Clinical Guideline for the Management was developed by 16 experts based on modified Delphi methodology. The meetings were held at the Argentinian Association of Enteral and Parenteral Nutrition (Asociación Argentina de Nutrición Enteral y Parenteral); the topics analyzed were definitions, epidemiology, enteral and parenteral nutrition, pharmacological and surgical treatments, and criteria for referring patients to intestinal rehabilitation centers. The document is aimed to provide basic scientific knowledge for medical institutions, health providers, healthcare providers, patients and families.


Asunto(s)
Humanos , Niño , Pediatría , Síndrome del Intestino Corto/complicaciones , Síndrome del Intestino Corto/terapia , Nutrición Parenteral , Intestino Delgado , Intestinos
12.
Arch. argent. pediatr ; 119(5): e513-e517, oct. 2021. tab, ilus
Artículo en Español | LILACS, BINACIS | ID: biblio-1292683

RESUMEN

La enfermedad de injerto contra huésped es una complicación grave que se presenta después del trasplante de médula ósea, con morbilidad y mortalidad elevadas. El patrón de oro para evaluar su compromiso gastrointestinal es la endoscopia digestiva alta y baja con toma de biopsia. El desarrollo de hematoma duodenal intramural es una complicación poco frecuente asociada con este procedimiento .Se presentan dos casos de hematoma duodenal intramural posendoscopia en pacientes con trasplante y sospecha de enfermedad injerto contra huésped que presentaron un cuadro agudo de dolor abdominal y sangrado intestinal. El diagnóstico se realizó por tomografía y recibieron tratamiento conservador, con un resultado favorable. En ambos casos, el diagnóstico de enfermedad injerto contra huésped gastrointestinal se hizo a través de las biopsias colónicas con histología duodenal normal, lo que sugiere evitar la toma de muestras duodenales para prevenir esta grave complicación en pacientes de alto riesgo y, de este modo, disminuir la morbilidad.


Graft versus host disease is a serious complication that occurs following bone marrow transplant with significant morbidity and mortality. The gold standard to diagnose gastrointestinal graft versus host disease is upper and lower gastrointestinal endoscopy with histological validation. The development of intramural duodenal hematoma is a rare complication associated with this procedure. We present two cases of intramural duodenal haematoma after duodenal biopsies in bone marrow transplant patients that presented clinically with severe abdominal pain and intestinal bleeding. In both cases, CT scans confirmed the diagnosis and they were treated conservatively with favorable outcomes.Final diagnosis of gastrointestinal graft versus host disease was based on the colonic samples with normal duodenal histoarchitecture, which could lead to avoiding duodenal samples in future patients in order to prevent this serious complication and thus diminish morbidity.


Asunto(s)
Humanos , Masculino , Lactante , Niño , Enfermedades Duodenales/diagnóstico , Enfermedades Duodenales/etiología , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/etiología , Endoscopía Gastrointestinal , Hematoma/diagnóstico , Hematoma/etiología , Hemorragia Gastrointestinal
13.
Hum Mol Genet ; 30(14): 1273-1282, 2021 06 26.
Artículo en Inglés | MEDLINE | ID: mdl-33822054

RESUMEN

Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). Loss of PTEN and BMPR1A results in a much more severe phenotype than deletion of either gene alone, with infantile onset pan-enteric polyposis and a high mortality rate. No effective pharmacological therapy exists. A multi-center cohort analysis was performed to characterize phenotype and investigate the therapeutic effect of mammalian target of rapamycin (mTOR) inhibition (adverse events, disease progression, time to colectomy and mortality) in patients with JPI. Among 25 JPI patients identified (mean age of onset 13 months), seven received mTOR inhibitors (everolimus, n = 2; or sirolimus, n = 5). Treatment with an mTOR inhibitor reduced the risk of colectomy (hazard ratio = 0.27, 95% confidence interval = 0.07-0.954, P = 0.042) and resulted in significant improvements in the serum albumin level (mean increase = 16.3 g/l, P = 0.0003) and hemoglobin (mean increase = 2.68 g/dl, P = 0.0077). Long-term mTOR inhibitor treatment was well tolerated over an accumulated follow-up time of 29.8 patient years. No serious adverse events were reported. Early therapy with mTOR inhibitors offers effective, pathway-specific and personalized treatment for patients with JPI. Inhibition of the phosphoinositol-3-kinase-AKT-mTOR pathway mitigates the detrimental synergistic effects of combined PTEN-BMPR1A deletion. This is the first effective pharmacological treatment identified for a hamartomatous polyposis syndrome.


Asunto(s)
Inhibidores mTOR , Síndromes Neoplásicos Hereditarios , Receptores de Proteínas Morfogenéticas Óseas de Tipo 1 , Colectomía , Hemorragia Gastrointestinal , Humanos , Poliposis Intestinal/congénito , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Síndromes Neoplásicos Hereditarios/cirugía , Fosfohidrolasa PTEN/genética , Serina-Treonina Quinasas TOR/genética
14.
Pediatrics ; 144(2)2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31366686

RESUMEN

Juvenile polyposis syndrome is a rare autosomal dominant condition characterized by multiple hamartomatous polyps throughout the gastrointestinal tract. Juvenile polyposis of infancy is a generalized severe form of juvenile polyposis syndrome associated with a poor prognosis. A 47-month-old female infant presented initially with gastrointestinal bleeding and protein-losing enteropathy at 4 months of age. At the age of 12 months, the condition worsened, requiring albumin infusions every 24 to 48 hours and red blood cell transfusions every 15 days. Upper gastrointestinal endoscopy, colonoscopy, and small-bowel enteroscopy revealed diffuse polyposis that was treated with multiple endoscopic polypectomies. Despite subtotal colectomy with ileorectal anastomosis, protein-losing enteropathy and bleeding persisted, requiring continued blood transfusions and albumin infusions. A chromosomal microarray revealed a single allele deletion in chromosome 10q23, involving both the PTEN and BMPR1A genes. Loss of PTEN function is associated with an increased activation of the protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway involved in cell proliferation. Treatment with sirolimus, an mTOR inhibitor, was initiated with the aim of inhibiting polyp growth. Soon after initiation of treatment with sirolimus, blood and albumin infusions were no longer needed and resulted in improved patient growth and quality of life. This case represents the first detailed report of successful drug therapy for life-threatening juvenile polyposis of infancy.


Asunto(s)
Inmunosupresores/uso terapéutico , Poliposis Intestinal/congénito , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/tratamiento farmacológico , Sirolimus/uso terapéutico , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Poliposis Intestinal/diagnóstico , Poliposis Intestinal/tratamiento farmacológico , Poliposis Intestinal/cirugía , Síndromes Neoplásicos Hereditarios/cirugía , Resultado del Tratamiento
15.
J Pediatr Gastroenterol Nutr ; 64(1): 37-41, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-28027214

RESUMEN

BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) (inflammatory bowel disease [IBD] before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. METHODS: We reviewed clinical and biological data of 4 previously published cases and added detailed data of 2 new cases of SD/THE with an IBD-like presentation. RESULTS: All the 6 patients presented with typical intractable diarrhea and hair abnormalities. The colon was affected in all of the patients: 1 had ileitis, 2 had panenteritis, and 2 presented with perianal disease. Fecal calprotectin level and erythrosedimentation rate were elevated in 2 cases each. All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect. Three showed a partial effect, and 1 patient sustained only a transient effect. CONCLUSIONS: SD/THE can have a similar presentation as VEOIBD, often as pancolitis. IBD treatments appear to have little efficacy for SD/THE, suggesting a different pathogenesis for the IBD-like features in SD/THE compared with classical IBD.


Asunto(s)
Colon/patología , Diarrea Infantil/patología , Retardo del Crecimiento Fetal/patología , Gastroenteritis/etiología , Enfermedades del Cabello/patología , Enfermedades Inflamatorias del Intestino/patología , Intestino Delgado/patología , Complejo de Antígeno L1 de Leucocito/metabolismo , Antiinflamatorios/uso terapéutico , Terapia Biológica , Colitis/etiología , Diarrea/etiología , Diarrea Infantil/tratamiento farmacológico , Diarrea Infantil/metabolismo , Diarrea Infantil/terapia , Facies , Heces/química , Femenino , Retardo del Crecimiento Fetal/tratamiento farmacológico , Retardo del Crecimiento Fetal/metabolismo , Retardo del Crecimiento Fetal/terapia , Cabello , Enfermedades del Cabello/tratamiento farmacológico , Enfermedades del Cabello/metabolismo , Enfermedades del Cabello/terapia , Humanos , Ileítis/etiología , Factores Inmunológicos/uso terapéutico , Lactante , Recién Nacido , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/metabolismo , Masculino , Mesalamina/uso terapéutico , Síndrome
18.
Acta Gastroenterol Latinoam ; 41(2): 111-8, 2011 Jun.
Artículo en Español | MEDLINE | ID: mdl-21894724

RESUMEN

BACKGROUND: Gastroesophageal reflux disease (GERD) has a prevalence of 10% to 20% in the pediatric population. The 24-hour pHmetry is still considered the "gold standard" for its correct diagnosis. Omeprazole is the elective drug for a proper treatment. However, there are no adequate pharmaceutical presentation forms for infants. OBJECTIVE: To assess the acid suppression capacity of a new pharmaceutical association of omeprazole with sodium bicarbonate and sodium alginate (OBA), powder for oral suspension, in small infants with GERD. The response was measured according to the gastric variations of pH after a 3-day treatment with OBA. PATIENTS AND METHOD: This is a pilot, prospective, open study in infants with no congenital nor associated anomalies under 12 months of age with GERD. Two double channel pHmetry with gastric sensor were performed on different days in the same patient. The first one to establish the diagnosis (day 0) and the second one (day 3) after receiving omeprazole (OBA) at 1.5 mg/kg/day in a twice/dose/day (BID). RESULTS: The comparison between the frst and the second gastric pHmetry showed a statistically significant reduction in gastric acidity. No adverse events were observed in infants and the suspension flavor was palatable. CONCLUSIONS: This new presentation of omeprazole (OBA) with sodium bicarbonate and sodium alginate powder for oral suspension is capable of a significant and intense acid suppression, necessary for treatment of infants with GERD. The taste of the solution was well accepted by all the babies, which is a very important finding for this age group.


Asunto(s)
Antiulcerosos/administración & dosificación , Reflujo Gastroesofágico/tratamiento farmacológico , Omeprazol/administración & dosificación , Monitorización del pH Esofágico , Femenino , Humanos , Lactante , Masculino , Proyectos Piloto , Polvos , Estudios Prospectivos , Resultado del Tratamiento
19.
Arch Argent Pediatr ; 109(1): 68-73, 2011 Feb.
Artículo en Español | MEDLINE | ID: mdl-21283948

RESUMEN

Eosinophilic gastroenteropathy (EoG) is an uncommon disease characterized by eosinophilic infiltration of the gastrointestinal (GI) mucosa. A chart review was performed searching for patients diagnosed between 2000 and 2010. EoG was diagnosed based on mucosal infiltration of 20 or more eosinophils/HPF in upper GI tract and more than 60 eosinophils/HPF in lower GI tract. Ten patients [median age: 10 mo. (r 2 mo.- 10 yr.)], 9 males, were diagnosed. Four presented with severe protracted diarrhea and weight loss, 2/10 abdominal distention and weight loss and 4/10 protein-losing enteropathy. Exclusive elemental or hypoallergenic diets were administered depending on the age of presentation with remission achieved in 4/10. Six required methylprednisolone to induce remission, 5 are still on budesonide. Due to the emergence of many cases of EoG in the last decade, we should increase our level of suspicion. Multicenter studies could contribute to define the best therapeutic approach for these patients.


Asunto(s)
Enteritis , Eosinofilia , Gastritis , Niño , Preescolar , Enteritis/diagnóstico , Enteritis/terapia , Eosinofilia/diagnóstico , Eosinofilia/terapia , Femenino , Gastritis/diagnóstico , Gastritis/terapia , Humanos , Lactante , Masculino , Estudios Retrospectivos
20.
Arch. argent. pediatr ; 109(1): 68-73, feb. 2011. tab, ilus
Artículo en Portugués | LILACS | ID: lil-583273

RESUMEN

La gastroenteropatía eosinofílica es una entidad inusual caracterizada por infiltración eosinofílica de la mucosa gastrointestinal.Efectuamos un análisis retrospectivo de 10 pacientes diagnosticados como gastroenteropatía eosinofílica entre 2000 y 2010. El diagnóstico histológico se confirmó por infiltración de 20 o máseosinófilos/campo de gran aumento en tracto digestivo superior y/o más de 60 en tracto digestivo inferior. Diez pacientes [edad mediana 10 meses (r 2 meses -10 años)] con predominio masculino (9:1), fueron diagnosticados como gastroenteropatía eosinofílica.La presentación clínica fue: diarrea y deterioro ponderal (4/10); distensión abdominal y deterioro ponderal (2/10) y edema e hipoalbuminemia (4/10). Se administró dieta elemental/hipoalergénicasegún edad de presentación clínica, con remisión sintomática en 4/10. Seis requirieron inducción con corticoides, 5 realizan mantenimiento con budesonide. Dado el incremento de casos de gastroenteropatía eosinofílica en laúltima década, debemos agudizar la sospecha diagnóstica. Un estudio multicéntrico podría colaborar en la definición del mejor enfoque terapéuticoen estos pacientes.


Asunto(s)
Humanos , Masculino , Femenino , Lactante , Diagnóstico Diferencial , Diarrea , Eosinófilos , Enteropatías Perdedoras de Proteínas/terapia , Gastropatías/terapia , Desnutrición
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