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Renal-hepatic-pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3 , which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3 -related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.
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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.
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.
Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Adulto , Fibras na Dieta , Proteínas , Antropometria , Constipação Intestinal , GordurasRESUMO
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.
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.
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Humanos , Criança , Adolescente , Ansiedade , Adolescente , Depressão , Conflito Familiar , GastriteRESUMO
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.
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This study aims to evaluate Helicobacter pylori with clarithromycin resistant genotypes in Manisa region, Turkey. Two hundred patients, who received diagnosis of Helicobacter pylori infection histopathologically, were included. The sex, age and endoscopy indications of the patients were recorded. Polymerase chain reaction method was applied to determine the clarithromycin resistance rate and resistance genotypes at the histologic sections prepared from gastric biopsies that had been embedded in paraffin after fixation by formalin. Helicobacter pylori resistance to clarithromycin was found in 19/200 (9.5%) patients. 10/19 (52.6%) of these clarithromycin-resistant patients had A2143G mutation and 9/19 (47.4%) had A2142G mutation. A2142C mutation on 23S rRNA gene was not detected for any of the patients. Clarithromycin can be used as a first step treatment in the eradication of Helicobacter pylori for the children in our region; if the treatment fails for some patients, clarithromycin resistance, especially A2143G and A2142G mutations should be considered.