RESUMEN
BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. METHODS: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints. RESULTS: Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared. CONCLUSION: In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.
This is the study to evaluate the congenital sucrase-isomaltase enzyme deficiency in chronic diarrhea cases covering adults and childhood in our country and the clinical features and treatment response characteristics of the variants detected in these patients.In addition, another aim of our study is that sucraseisomaltase enzyme deficiency should be considered in the differential diagnosis and should be kept in mind, especially in cases with chronic diarrhea whose cause cannot be determined in childhood.
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Errores Innatos del Metabolismo de los Carbohidratos , Diarrea , Mutación , Complejo Sacarasa-Isomaltasa , Humanos , Complejo Sacarasa-Isomaltasa/deficiencia , Complejo Sacarasa-Isomaltasa/genética , Errores Innatos del Metabolismo de los Carbohidratos/genética , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Femenino , Masculino , Estudios Retrospectivos , Niño , Adolescente , Preescolar , Diarrea/genética , Diarrea/congénito , Diarrea/etiología , Terapia de Reemplazo Enzimático , Heterocigoto , Lactante , Adulto , Adulto Joven , Homocigoto , Pruebas GenéticasRESUMEN
Celiac disease (CD) is an autoimmune enteropathy. Peroxiredoxins (PRDXs) are powerful antioxidant enzymes having an important role in significant cellular pathways including cell survival, apoptosis, and inflammation. This study aimed at investigating the expression levels of all PRDX isoforms (1-6) and their possible relationships with a transcription factor, HIF-1α, in the small intestinal tissue samples of pediatric CD patients. The study groups consisted of first-diagnosed CD patients (n = 7) and non-CD patients with functional gastrointestinal tract disorders as the controls (n = 7). The PRDXs and HIF-1α expression levels were determined by using real-time PCR and Western blotting in duodenal biopsy samples. It was observed that the mRNA and protein expression levels of PRDX 5 were significantly higher in the CD patients, whereas the PRDX 1, -2, and -4 expressions were decreased in each case compared to the control group. No significant differences were detected in the PRDX 3 and PRDX 6 expressions. The expression of HIF-1α was also significantly elevated in CD patients. These findings indicate, for the first time, that PRDXs, particularly PRDX 5, may play a significant role in the pathogenesis of CD. Furthermore, our results suggest that HIF-1α may upregulate PRDX-5 transcription in the duodenal tissue of CD.
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BACKGROUND: Candidemia is a life-threatening infection in hospitalied children. This study aimed to evaluate candidemia's demographic and clinical characteristics and identify the risk factors and outcomes of Candida albicans (CA) and non-albicans Candida (NAC) spp. METHODS: A retrospective cohort was designed to evaluate paediatric patients with candidemia between January 2008 and December 2020. RESULTS: A total of 342 episodes in 311 patients were evaluated. The median age of the patients was 2.1 years (1 month-17 years and 6 months), and 59.6% were male. The prevalence of NAC (67.5%) candidemia was higher than that of CA (32.5%). The most commonly isolated Candida species was Candida parapsilosis (43.3%), followed by C. albicans (32.5%), Candida glabrata (6.1%) and Candida tropicalis (5.0%). The length of hospital stay prior to the positive culture and the total length of hospital stay were longer in the NAC group (p = .003 and p = .006). The neutrophil count was lower in the NAC group (p = .007). In the multivariate analysis, total parenteral nutrition, antifungal prophylaxis and a history of coagulase-negative staphylococci (CoNS) culture positivity in the past month were risk factors for developing candidemia due to NAC (p values were .003, .003 and .045). C. albicans and C. parapsilosis fluconazole resistance were 9.5% and 46.6%, respectively. The rates of amphotericin B resistance were 1.1% and 7.6% in C. albicans and C. parapsilosis, respectively. Mortality (14-day and 30-day) rates did not differ between the groups. CONCLUSIONS: A history of CoNS culture positivity in the past month, total parenteral nutrition, and antifungal prophylaxis increases the risk of NAC candidemia.
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Candidemia , Humanos , Niño , Masculino , Preescolar , Femenino , Candidemia/tratamiento farmacológico , Candidemia/epidemiología , Candidemia/microbiología , Antifúngicos/uso terapéutico , Estudios Retrospectivos , Candida , Candida albicans , Candida parapsilosis , Hospitales Universitarios , Factores de Riesgo , Pruebas de Sensibilidad MicrobianaRESUMEN
CD is defined as T-lymphocyte-mediated gluten sensitivity. Although CD is known to affect the small intestine, it is nonetheless a multisystem disorder. Liver involvement in CD may vary from isolated hypertransaminasemia to cirrhosis. Because CD is an inappropriate immune response to gluten proteins, strict gluten-free diet is the principal therapy, along with management of liver dysfunction. In patients who fail to respond to a gluten-free diet, immunosuppressive drugs may improve intestinal inflammatory activity in untreated CD. The present case report is of a 25-yr-old woman with diarrhea lasting several weeks. The patient had received a liver transplant 13 yr earlier, and presented with cryptogenic cirrhosis diagnosed as CD. This appears to be the first case of its kind in which a pediatric long-term liver transplant patient presents with diarrhea eventually diagnosed as CD whose diet included gluten, and who was treated by an immunosuppressive drug regimen. Because of the normalization of CD-related antibodies in the post-transplantation period without gluten restriction, CD should be part of a list of diagnostic possibilities in liver transplant patients presenting with diarrhea of unknown etiology.
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Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/inmunología , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/etiología , Inmunosupresores/uso terapéutico , Trasplante de Hígado/efectos adversos , Adulto , Enfermedad Celíaca/complicaciones , Diarrea/etiología , Dieta Sin Gluten , Endoscopía , Femenino , Humanos , Inflamación , Cirrosis Hepática/congénito , Cirrosis Hepática/etiología , Cirrosis Hepática/terapia , Hepatopatías/complicaciones , Hepatopatías/terapia , Factores de TiempoRESUMEN
BACKGROUND: This study examines the results of liver transplantation (LT) in patients with biliary atresia, considering whether they underwent the Kasai procedure beforehand. LT and determine postoperative and long-term graft outcomes. METHODS: This single-center, retrospective study included 72 pediatric patients diagnosed with postpartum biliary atresia who underwent LT between 2010 and 2022. We included patients who underwent LT either after or without the Kasai procedure and compared the demographic data of the patients with various factors, such as the Pediatric End-Stage Liver Disease scores and laboratory values. RESULTS: The study included 72 patients, with 39 of them being female (54.2%) and 33 of them being male (45.8%). Of the 72 patients in the study, 47 (65.3%) had undergone the Kasai procedure, and 25 (34.7%) had not. The preoperative and postoperative month 1 bilirubin values were lower in patients who underwent the Kasai procedure and were higher in postoperative months 3 and 6. Preoperative bilirubin values, postoperative month 3 bilirubin values, and preoperative albumin values were higher in patients who developed mortality (P < .05). Cold ischemia time was longer in patients who developed mortality (P < .05). CONCLUSIONS: Our study showed a higher mortality rate in patients who underwent the Kasai procedure. The results also showed that LT was more effective in children, as patients with Kasai had higher mean bilirubin values and higher preoperative albumin values than patients without Kasai.
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Atresia Biliar , Enfermedad Hepática en Estado Terminal , Trasplante de Hígado , Humanos , Masculino , Niño , Femenino , Lactante , Atresia Biliar/cirugía , Portoenterostomía Hepática/efectos adversos , Portoenterostomía Hepática/métodos , Trasplante de Hígado/métodos , Estudios Retrospectivos , Enfermedad Hepática en Estado Terminal/etiología , Índice de Severidad de la Enfermedad , Bilirrubina , Resultado del TratamientoRESUMEN
BACKGROUND: Chronic abdominal pain is a frequent childhood complaint. This study aims to determine the relationship between bile reflux, which is increasing with the growth in packaged food consumption resulting from the changing food industry, and Helicobacter pylori gastritis. METHODS: In this retrospective study, 804 cases where there was an endoscopic examination for abdominal pain were included. We recorded the patients` age, sex, and macroscopic and microscopic endoscopic findings. Patients with chronic diseases were excluded. RESULTS: Our study included 804 cases. Of patients, 61.8% were female and 38.2% were male. The mean age was 11.56±4.14 years. The Helicobacter pylori gastritis rate was found to be 22.3% among all patients. Bile reflux was seen in 192 (23.9%) patients. Only 27 (14.1%) of the 192 patients had Helicobacter pylori positivity (p=0.002). CONCLUSIONS: Helicobacter pylori gastritis is less common among patients with bile reflux. In another study conducted in our outpatient clinic before the 2000s, the frequency of Helicobacter pylori gastritis was found to be 40%, but after 2000 this rate decreased to 22.3% due to bile reflux caused by the changing food industry. This result may be explained by the bactericidal effects of bile acids.
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Reflujo Biliar , Gastritis , Infecciones por Helicobacter , Helicobacter pylori , Dolor Abdominal , Adolescente , Reflujo Biliar/complicaciones , Reflujo Biliar/epidemiología , Niño , Femenino , Gastritis/epidemiología , Gastritis/etiología , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/epidemiología , Humanos , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Hepatitis-associated aplastic anemia (HAAA) is a rare complication that presented with bone marrow failure after acute hepatitis. HAAA usually occurs in adolescent men within 1-6 months following hepatitis. Most of HAAA's etiology has non-A-E viral hepatitis. METHODS: Our retrospective study included patients with acute fulminant hepatitis who had been treated in Ege University Pediatric Gastroenterology, Hepatology and Nutrition Department and Izmir Kent Hospital Clinical, laboratory, and epidemiological data of the patients were collected from the files. RESULTS: In this study, 499 children underwent liver transplantation (LT) in two pediatric transplantation centers. Sixty-eight (13.6%) out of 499 patients, underwent liver transplantation due to fulminant hepatic failure (FHF). Therefore, a total of 64 patients (34 girls, 30 boys) with a diagnosis of FHF have included in the study. Thirty-two (50.0%) of 64 FHF were due to non-A-E hepatitis and 4 out of the 64 patients (6.2%) with FHF developed HAAA. All of the patients received prednisolone as immunosuppression treatment after LT. Three patients were also given Tacrolimus and 1 received an additional mycophenolate mofetil. One of the patients was given prednisolone and cyclosporine treatment without tacrolimus. Bone marrow transplantation was performed in 1 patient (25.0%). Two of the patients received immunosuppressive treatment including rabbit-derived anti-thymocyte globulin, cyclosporine, and initially prednisolone. CONCLUSION: In children who underwent liver transplantation for non-A-E FHF are at high risk to develop aplastic anemia. The clinicians should be alert after orthotropic liver transplantation patient could develop aplastic anemia and early treatment with immunosuppressive therapies result in a more successful outcome.
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Anemia Aplásica , Hepatitis Viral Humana , Trasplante de Hígado , Adolescente , Anemia Aplásica/epidemiología , Anemia Aplásica/terapia , Anemia Aplásica/virología , Niño , Femenino , Hepatitis Viral Humana/complicaciones , Humanos , Incidencia , Trasplante de Hígado/efectos adversos , Masculino , Estudios RetrospectivosRESUMEN
Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia. Conclusions Two different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.
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Proteínas de Unión al Calcio/deficiencia , Citrulinemia/genética , Citrulinemia/patología , Mutación , Transportadores de Anión Orgánico/deficiencia , Adolescente , Preescolar , Citrulinemia/clasificación , Citrulinemia/terapia , Femenino , Humanos , Lactante , Masculino , Proteínas de Transporte de Membrana Mitocondrial , Pronóstico , TurquíaRESUMEN
OBJECTIVES: The aim of the present study was to investigate psychiatric symptoms in adolescents diagnosed as having chronic gastritis, and to evaluate family functioning. METHODS: The population consisted of adolescents who were diagnosed endoscopically and histopathologically as having chronic gastritis without additional chronic disease. The anxiety levels, depression levels, and emotional and behavioral symptoms of the adolescents were measured using the Screen for Child Anxiety Related Emotional Disorders (SCARED), Beck Depression Inventory (BDI), and Strengths and Difficulties Questionnaire (SDQ). Family functioning was evaluated using the Family Assessment Device (FAD). RESULTS: Fifty eight adolescents were included to study. According to the SDQ subscale results, adolescents with gastritis had more problems in emotional, hyperactivity, and peer relations areas, but the results in conduct problems and prosocial behaviors were normal. Levels of all subscales of Family Assessment Device were higher than 2, showing problems in family functioning. CONCLUSIONS: This study suggests that adolescents with chronic gastritis experience more difficulties in peer relations and family functioning, and they express more emotional problems.
Objetivos. El objetivo de este estudio fue investigar los síntomas psiquiátricos en adolescentes con diagnóstico de gastritis crónica y evaluar el funcionamiento familiar. Métodos. La población estuvo conformada por adolescentes con diagnóstico endoscópico e histopatológico de gastritis crónica sin otra enfermedad crónica adicional.Se midieron los niveles de ansiedad, los niveles de depresión y los síntomas emocionales y conductuales de los adolescentes mediante el cuestionario para trastornos emocionales infantiles relacionados con la ansiedad (Screen for Child Anxiety Related Disorders, SCARED), el inventario de depresión de Beck (Beck Depression Inventory, BDI) y el cuestionario de capacidades y dificultades (Strengths and Difficulties Questionnaire, SDQ). El funcionamiento familiar se evaluó con el instrumento McMaster de evaluación familiar (McMaster Family Assessment Device, FAD). Resultados. Se incluyó a 58 adolescentes en el estudio.Conforme a los resultados de las subescalas del SDQ, los adolescentes con gastritis tenían más trastornos en las dimensiones de problemas emocionales, hiperactividad y relación con los pares, aunque los resultados de problemas conductuales y conducta prosocial fueron normales. En todas las subescalas del instrumento McMaster de evaluación familiar, los puntajes fueron superiores a 2, lo que indica problemas en el funcionamiento familiar. Conclusiones. según este estudio, los adolescentes con gastritis crónica tienen más dificultades en la relación con los pares y en el funcionamiento familiar, y expresan más problemas emocionales.
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Salud de la Familia , Gastritis/psicología , Trastornos Mentales/epidemiología , Problema de Conducta/psicología , Adolescente , Enfermedad Crónica , Emociones , Femenino , Humanos , Relaciones Interpersonales , Masculino , Trastornos Mentales/diagnóstico , Grupo Paritario , Escalas de Valoración Psiquiátrica , Encuestas y CuestionariosRESUMEN
Introduction: Functional constipation (FC) is a common problem in childhood. This study intended to investigate the dietary properties and anthropometric findings of children with FC. Population and methods: Patients with FC were defined according to the Rome IV diagnostic criteria. The control group included children who were not diagnosed with FC or any other organic disease. The children who admitted to pediatric gastroenterology outpatient clinic between September 2017-March 2018 were included. Anthropometric measurements of weight, height, and body mass index were recorded. Body mass index z-scores were used to identify for overweight and obese children. Malnutrition was defined according to Waterlow criteria. The three-day nutritional diaries of both FC patients and control subjects were assessed and the daily average of calorie, fiber, carbohydrate, protein and fat intake were calculated by the same nutritionist. Results: Fourty patients with FC and fourty healthy control were included. Twenty-four patients with FC were in the normal height and weight ranges. There was no significant difference in the average daily calorie, carbohydrate, fat and fiber intake between the FC and control groups. Although protein ratios (%) in the diet were found to be significantly lower in children with FC, the amount of protein that taken daily was found to be within normal limits in both groups. Conclusion: Most children with FC were in the normal range for height and weight. There was no significant relationship between FC and carbohydrate, fat and fiber content in the diet, only low protein ratios were found in FC.
Introducción. El estreñimiento funcional (EF) es un problema frecuente en la niñez. El objetivo fue investigar los hallazgos alimentarios y antropométricos de los niños con EF. Población y métodos. Se clasificó a los pacientes con EF según Roma IV. El grupo de referencia incluyó a niños sin diagnóstico de EF ni ninguna otra enfermedad. Se incluyó a los niños de los consultorios de gastroenterología pediátrica entre septiembre de 2017 y marzo de 2018. Se registraron peso, estatura e índice de masa corporal. Se usaron los puntajes Z del índice de masa corporal para identificar sobrepeso y obesidad. La desnutrición se definió según Waterlow. Se evaluaron los diarios de alimentación de tres días de ambos grupos; el mismo nutricionista calculó el promedio diario de calorías, fibra, hidratos de carbono, proteínas y grasa. Resultados. Se incluyó a 40 pacientes con EF y 40 controles sanos. Veinticuatro pacientes con EF tenían estatura y peso normales. No hubo diferencias significativas en el promedio diario de calorías, hidratos de carbono, grasa y fibra entre los grupos de EF y de referencia. Si bien la proporción (%) de proteínas en la dieta fue significativamente más baja en los niños con EF, la cantidad de proteínas ingerida a diario estuvo dentro de los límites normales en ambos grupos. Conclusión. La mayoría de los niños con EF tenían estatura y peso normales. No hubo una relación significativa entre el EF y el contenido de hidratos de carbono, grasa y fibra; solo proporciones bajas de proteínas en el EF.
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Estreñimiento/epidemiología , Dieta , Proteínas en la Dieta/administración & dosificación , Conducta Alimentaria , Antropometría , Estatura , Índice de Masa Corporal , Peso Corporal , Estudios de Casos y Controles , Niño , Preescolar , Estudios Transversales , Ingestión de Energía , Femenino , Humanos , Masculino , Obesidad Infantil/epidemiologíaRESUMEN
Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid ß-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentation We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case's liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.
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Enfermedades Cardiovasculares/patología , Enfermedad de Gaucher/complicaciones , Glucosilceramidasa/genética , Hepatopatías/patología , Mutación , Enfermedades Cardiovasculares/etiología , Niño , Femenino , Enfermedad de Gaucher/enzimología , Enfermedad de Gaucher/genética , Homocigoto , Humanos , Lactante , Hepatopatías/etiología , Pronóstico , HermanosRESUMEN
CONTEXT: Rapunzel syndrome is a rare form of gastric trichobezoar that develops through outstretching of the bezoar from the stomach to the intestine. CASE REPORT: A 12-year-old girl who had been diagnosed with celiac disease six years earlier was brought to the department of pediatric gastroenterology because of abdominal distension. A palpable mass was detected. A trichobezoar that stretched to the small intestine was removed surgically. The patient was diagnosed as having anxiety and depressive disorder, and treatment started. Following the treatment, her previous trichophagia completely disappeared. CONCLUSION: Presence of trichobezoar should be kept in mind, especially when young girls who have psychiatric problems suffer from gastrointestinal symptoms.
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Bezoares/diagnóstico por imagen , Enfermedad Celíaca/complicaciones , Tricotilomanía/complicaciones , Bezoares/cirugía , Enfermedad Celíaca/psicología , Niño , Femenino , Humanos , Síndrome , Tomografía Computarizada por Rayos X , Tricotilomanía/psicologíaRESUMEN
BACKGROUND/AIMS: Pediatric intestinal pseudo-obstruction (PIPO) is a severe disorder of gut motility. In this rare and difficult-to-manage disease, complex treatment method, such as intestinal transplantation, is sometimes needed. This study evaluated the management and follow-up results of patients with PIPO who received treatment at our center. MATERIALS AND METHODS: The cases of 13 patients with PIPO were reviewed retrospectively. Demographic data, clinical features, etiologies, pharmacological and surgical treatments, nutritional support, anthropometric findings, small bowel transplantation (SBT), and survival rates were assessed. RESULTS: Two of the patients were diagnosed at 1 and 5 years of age, while other patients were diagnosed during neonatal period. The etiological cause could not be identified for 5 patients. Pharmacological treatment response was observed in 38.4% of patients. Post-pyloric feeding was applied in 4 patients, but no response was observed. Gastrostomy decreased the clinical symptoms in 3 patients during the abdominal distension period. Total oral nutrition was achieved in 38.4% of the total-parenteral-nutrition (TPN)-dependent patients. It was observed that anthropometric findings improved in patients with total oral nutrition. Liver cirrhosis developed in 1 patient. Venous thrombosis developed in 4 patients. The SBT was performed on 3 patients. One of these patients has been followed up for the last 4 years. CONCLUSION: Pediatric intestinal pseudo-obstruction is a rare disease that can present with a wide range of clinical symptoms. While some patients require intestinal transplantation, supportive care may be sufficient in others. For this reason, patients with PIPO should be managed individually.
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Seudoobstrucción Intestinal/mortalidad , Seudoobstrucción Intestinal/terapia , Niño , Preescolar , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Procedimientos Quirúrgicos del Sistema Digestivo/mortalidad , Femenino , Humanos , Lactante , Seudoobstrucción Intestinal/patología , Intestinos/trasplante , Masculino , Apoyo Nutricional/métodos , Apoyo Nutricional/mortalidad , Evaluación de Resultado en la Atención de Salud , Estudios Retrospectivos , Tasa de Supervivencia , Centros de Atención Terciaria , TurquíaRESUMEN
Özyurt G, Çagan-Appak Y, Karakoyun M, Eliaçik K, Baran M. Father`s role in infantile anorexia. Turk J Pediatr 2018; 60: 608-611. Organic diseases account for only 16-30% of early feeding disorders. During the infancy period, mother-child relationship is in the center of feeding and disturbances in this relationship can also cause feeding disorders. Infantile anorexia (IA) usually begins within the first three years of age, but it has most commonly been observed to emerge between 9 and 18 months of age, a time during which babies transition to spoon and self-feeding. It is also worth noting that babies start to gain autonomy during this time frame. The present study discusses the case of an 8-month-old girl diagnosed with IA after ruling out food allergies, gastro-esophageal reflux disease, malrotation, and neurological problems. The patient was diagnosed with IA was treated with the relational regulation of parents and active participation of her father during the treatment process. It is found that mother-child relational disturbances and conflicts decreased dyadic reciprocity and non-appropriate affects in feeding times are associated with IA. Effective treatment strategies for non-organic feeding disorders might be developed by giving importance to maternal mental health and providing paternal involvement in baby caregiving.
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Anorexia/diagnóstico , Conflicto Familiar/psicología , Padre/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Relaciones Padres-Hijo , Anorexia/etiología , Anorexia/terapia , Trastornos de Alimentación y de la Ingestión de Alimentos/terapia , Femenino , Humanos , Lactante , Masculino , Psicoterapia/métodosRESUMEN
BACKGROUND/AIMS: Thiopurines are widely used in the treatment of inflammatory bowel disease, but data are limited. Or aim was to determine the outcome of thiopurine application in children diagnosed with ulcerative colitis (UC). MATERIALS AND METHODS: Forty-eight patients with UC, diagnosed at our center between 2005 and 2016 and applied azathiopurine (AZA), were included in the study. Data were collected retrospectively. The diagnosis of UC was based on the conventional clinical, radiological, histological, and endoscopic assessment. All patients with UC at this intercept were analyzed at the 4- and 6-week and 3-month intervals after remission to determine patient characteristics, thiopurine properties, and its efficacy and toxicity. Determination of remission, relapse, and steroid refractoriness/dependency were guided according to the European Crohn's and Colitis Organisation consensus. RESULTS: Azathiopurine was started at the median 1 month (0-12 months), and it was applied thereafter for maintenance (n=43). Response to remission induction was obtained in 40 (93.7%) patients. The median duration of the AZA treatment was 24 months (5-63). In 34 (85%) of the 40 children, it was well tolerated until the last visit. During the follow-up, adverse events occurred in 6 patients. These are leucopenia, neutropenia, vomiting, diarrhea, and skin rush. CONCLUSION: Thiopurine is an appropriate treatment option for remission in patients with UC. For a long-term follow-up, it is very important to identify patients with UC who have clinical remission with side effects and with thiopurine application.
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Colitis Ulcerosa/tratamiento farmacológico , Inmunosupresores/administración & dosificación , Quimioterapia de Inducción/métodos , Quimioterapia de Mantención/métodos , Mercaptopurina/análogos & derivados , Adolescente , Niño , Femenino , Humanos , Masculino , Mercaptopurina/administración & dosificación , Recurrencia , Estudios Retrospectivos , Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVE: The aim of this study was to examine the etiology of gallstones in children and responses to ursodeoxycholic acid (UDCA) treatment. METHODS: 74 children with cholelithiasis were recruited, and underwent ultrasonography to detect gallstones. All relevant clinical information was recorded in a structured proforma. RESULTS: The commonest risk factor was a family history of gallstones. Most children responded to UDCA treatment in the first six months; children with hemolytic diseases showed no response to UDCA. CONCLUSION: UDCA treatment may be useful before surgery in asymptomatic patients of cholelithiasis without hemolytic diseases.
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Cálculos Biliares , Adolescente , Niño , Preescolar , Colagogos y Coleréticos/uso terapéutico , Colecistectomía , Estudios de Cohortes , Femenino , Cálculos Biliares/diagnóstico por imagen , Cálculos Biliares/epidemiología , Cálculos Biliares/etiología , Cálculos Biliares/terapia , Humanos , Lactante , Masculino , Resultado del Tratamiento , Turquía/epidemiología , Ácido Ursodesoxicólico/uso terapéuticoRESUMEN
Öztan MO, Güngör-Takes G, Çagan-Appak Y, Yildiz C, Karakoyun M, Baran M. Management of NSAID-related pyloric obstruction in a child using endoscopic balloon dilatation: A case report. Turk J Pediatr 2018; 60: 765-768. A gastric outlet obstruction (GOO) is a major complication of peptic ulcers (PUs) and corrosive ingestion in children; however, the optimal management of a patient with a GOO after a PU remains controversial. Although surgical correction is the most common treatment option, endoscopic balloon dilatation and simultaneous dilatation with a steroid injection are used more frequently as first-line treatments for PU-related GOOs. These patients require operative interventions when the obstruction cannot be managed using endoscopic approaches or in cases of relapsing after the procedure. Here, we present a case to create awareness that endoscopic balloon dilatation is a simple, effective, and safe therapy for a PU-related GOO.
RESUMEN
Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD. In this article, we describe a case of I-IBD with a resistant fistula, in which remission occurred following colchicine therapy. The patient was a six-month-girl with complaints of bloody diarrhea and a perianal abscess of three months duration. Laboratory tests revealed elevated inflammatory parameters, hypoalbuminemia, and anemia. Results of repeated viral, bacterial and parasitic analyses were negative. Endoscopic and histopathological examinations confirmed a diagnosis of I-IBD. Although diarrhea episodes decreased following intensive conventional treatment with immunosuppressive therapy and anti-tumor necrosis factor, the perianal abscess and fistula did not resolve. Molecular genetic analysis to identify causes of infantile disease revealed the MEFV gene mutation. Thus, colchicine was added to the treatment regimen. Following treatment with colchicine, defecation returned to normal, and the fistula resolved. The MEFV gene mutation should be investigated in children with infantile colitis and resistant fistulas, particularly in Mediterranean countries. In patients with infantile colitis who have the MEFV gene mutation, colchicine treatment may be an alternative to intensive immunosuppressive therapy.
RESUMEN
BACKGROUND/AIMS: A liver transplant is the preferred treatment for patients with end-stage liver disease, as it usually results in longterm survival. However, due to the use of chronic immunosuppressive therapy, which is necessary to prevent rejection, de novo cancer is a major risk after transplantation. The aim of this study was to assess the incidence of post-transplant malignancies in children after liver transplantations. MATERIALS AND METHODS: The study group consisted of 206 liver transplant recipients, with no history of cancer, including hepatocellular carcinoma, in two liver transplantation centers in Turkey between 1997 and 2015. Data were obtained from patient's data chart. RESULTS: In the study group, de novo cancer was diagnosed in 13 of the 206 patients. Post-transplant lymphoproliferative disease (PTLD) occurred in seven (53.8%) patients and other malignancies in six of the 13 patients. The types of PTLD were as follows: B-cell origin (n=2), Epstein-Barr virus (EBV)-related (n=2), T-cell origin (n=1), and Hodgkin's lymphoma (n=2). EBV DNA was isolated from seven patients, three of whom developed PTLD. The others developed Kaposi's sarcomas, Burkitt's lymphomas, cutaneous large-cell lymphomas, Hodgkin's lymphomas, and liver sarcomas. CONCLUSION: After transplantation, immunosuppressive treatment is unavoidable, increasing the risk of malignancies. However, a close follow-up and periodic screening can reduce cancer-related mortality and morbidity.
Asunto(s)
Terapia de Inmunosupresión/efectos adversos , Neoplasias Hepáticas/etiología , Trasplante de Hígado/efectos adversos , Trastornos Linfoproliferativos/etiología , Sarcoma de Kaposi/etiología , Neoplasias Cutáneas/etiología , Niño , Preescolar , Femenino , Herpesvirus Humano 4 , Enfermedad de Hodgkin/etiología , Humanos , Inmunosupresores/efectos adversos , Lactante , Trastornos Linfoproliferativos/virología , Masculino , Turquía/epidemiologíaRESUMEN
BACKGROUND/AIMS: Biliary atresia (BA) is the main cause of neonatal cholestasis and the primary reason for infant liver transplants worldwide. It is an obliterative cholangiopathy observed only in children and caused by progressive inflammation and fibrosis of the bile duct. We collaborated with a liver transplantation center to investigate the effects of follow-up in patients with BA. MATERIALS AND METHODS: Medical records of 99 patients who were diagnosed with BA and monitored at our center from 1990 to 2002 (27 patients) and from 2003 to 2015 (72 patients) were analyzed retrospectively. Patients were evaluated for birth weight; age at jaundice onset; age at alcoholic stool detection; age at the time of Kasai portoenterostomy (KPE), if performed; age at admission to our center; age at liver transplantation; duration between KPE and transplantation; pediatric end-stage liver disease (PELD) scores during transplantation; and growth and developmental status. The periods 1990-2002 and 2003-2015 were defined as phases I and II, respectively. RESULTS: The median age of the patients at presentation to our hospital was 149 (range: 20-730) days during phase I and 61 (range: 28-720) days during phase II. The median age at jaundice onset was 7 days, and the median age at alcoholic stool detection was 15 days. There was no significant difference between phases I and II in terms of age at jaundice onset, age at alcoholic stool detection, or birth weight. Twenty-five (92.5%) of the 27 patients in the phase I group were admitted to our center after undergoing KPE. Forty-four (61.1%) of the 72 patients in the phase II group (median age at the time of KPE: 47 days) were operated at our center. Median ages of the patients at the time of KPE at our center were 67.5 (range: 25-220) and 47 (range: 28-139) days during phases I and II, respectively. The median age of the 28 patients who were transferred from another center was 70 (range: 45-105) days during phase II. Liver transplantation was performed in 55 of 99 patients (55.5%). Significant differences were observed in the age at transplantation, duration between KPE and transplantation, and PELD scores between patients with BA who underwent KPE at our center and who underwent KPE at other institutes from other institutes. CONCLUSION: These findings demonstrate the importance of a timely diagnosis of BA and undergoing KPE before malnutrition and/or cirrhosis deteriorate the patient's health. Furthermore, follow-up of patients with BA at a liver transplantation center increased the success of KPE and improved survival rates.