Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

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.

Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.

OBJECTIVE: Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert syndrome should be considered based on clinical and laboratory findings in differential diagnosis, which can be supported by genetic analysis. This study aimed to evaluate the clinical findings and UGT1A1 mutations of children with Gilbert syndrome. MATERIALS AND METHODS: Patients who were admitted to the pediatric gastroenterology clinic and who were considered to have Gilbert syndrome based on clinical and laboratory findings were included in the study. The UGT1A1 analysis was performed by Sanger sequence analysis. RESULTS: A total of 56 children were included in the study. A(TA)7TAA, A(TA)6TAA, and (TA)6/7 allele promoter polymorphism was detected in 75.5%, 22.5%, and 2% of the patients, respectively. Other than these, in 3 patients, 3 different sequence variants associated with GS [c.880_893delinsA (p.Tyr294MetfsTer69) and c.1091C>T(p.Pro365Leu)] were detected. CONCLUSION: We detected 7 TA repeats in the majority of our patients. A mild bilirubin elevation was determined in cases with 6 repetitions that were not considered risky for Gilbert syndrome. We concluded that the c.880_893delinsA (p.Tyr294MetfsTer69) variant, previously shown to be associated with Crigler-Najjar syndrome type I, may also be associated with partial enzyme deficiency leading to the Gilbert syndrome phenotype.

Efficiency of azathioprine monotherapy for maintenance treatment of autoimmune hepatitis in children.

INTRODUCTION: Autoimmune hepatitis (AIH) is a common pediatric liver disease and long-term remission is usually maintained with low dose prednisolone and azathioprine (AZA). The aim of this study is to evaluate the efficiency of AZA monotherapy for maintenance treatment of children with AIH. MATERIALS AND METHODS: This study was a retrospective analysis of the 55 children with AIH. Patients were divided into two groups: combination therapy (CT) and AZA group based on maintenance therapy. Results of these two different maintenance treatments were compared in children with AIH. RESULTS: The mean age of the children was 10.67 ± 4.30 years (61.8% females) with a mean follow-up period of 46.8 ± 33.6 months. For maintenance treatment, 39 (70.9%) patients received AZA and 16 (29.1%) patients received CT. Relapse was observed in nine (19.6%) cases in the follow-up period; two were in the CT group (2/16; 12.5%) and seven (7/39; 17.9%) were in the AZA group (P = 0.620). In AZA group, the duration of remission was 22.2 ± 6.1 months and that was longer than CT group (P = 0.025). CONCLUSION: Our study suggests that AZA monotherapy is an effective and safe therapy for maintaining remission in children with AIH. AZA monotherapy may be used for maintenance treatment of children with AIH, except in cases of overlap syndrome and also to avoid side effects of long-term used steroids and to improve treatment compliance in proper cases.

Outcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series.

Waardenburg syndrome is a genetic disease characterized by hearing loss and pigmentation abnormalities. Waardenburg syndrome type 4 is very rare, and children with Waardenburg syndrome type 4 present with intestinal aganglionosis. The associated findings and severity of Waardenburg syndrome type 4 may also differ significantly between cases. Intestinal insufficiency is probable and creates difficulties in terms of treatment; intestinal transplant may be required. In this case report, we present 4 cases of patients with Waardenburg syndrome who have intestinal issues, 2 of whom underwent small bowel transplant. Appropriate surgical and nutritional management should be provided for patients with Waardenburg syndrome type 4 who have gastrointestinal manifestations.

Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype.

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.

Propiedades alimentarias y hallazgos antropométricos en los niños con estreñimiento funcional: estudio transversal / Dietary properties and anthropometric findings of children with functional constipation: a cross-sectional study

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.

Dietary properties and anthropometric findings of children with functional constipation: a cross-sectional study. / Propiedades alimentarias y hallazgos antropométricos en los niños con estreñimiento funcional: estudio transversal.

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.

Evaluación de problemas emocionales y conductuales, y del funcionamiento familiar en adolescentes con gastritis crónica / Evaluation of emotional, behavioral problems and family functioning in adolescents with chronic gastritis

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.

Evaluation of emotional, behavioral problems and family functioning in adolescents with chronic gastritis. / Evaluación de problemas emocionales y conductuales, y del funcionamiento familiar en adolescentes con gastritis crónica.

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.

Assessment and outcome of pediatric intestinal pseudo-obstruction: A tertiary-care-center experience from Turkey.

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.

Father`s role in infantile anorexia.

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.

Management of NSAID-related pyloric obstruction in a child using endoscopic balloon dilatation: A case report.

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.

The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.

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.

Clinical findings, child and mother psychosocial status in functional constipation.

BACKGROUND/AIMS: Functional constipation (FC) is a common problem in childhood. In this study, we aimed to analyze the clinical and sociodemographic findings of patients with FC, parenting behaviors, and psychosocial states of children and parents. MATERIALS AND METHODS: According to the Roma III diagnosis criteria, 32 patients with FC and 31 healthy controls were included. Patients' clinical and sociodemographic data set associated with constipation was determined. Strengths and Difficulties Questionnaire was used to screen the emotional and behavioral problems in children. To evaluate the parents and family, Beck Depression Inventory, State-Trait Anxiety Inventory, Parental Attitude Research Instrument were used. RESULTS: Emotional and peer problems subscale scores, parental concerns as well as over-parenting attitude were found higher in patients. Significant difference was also observed between the groups in terms of mean score of authoritarian attitude dimensions. Attitude of hostility and rejection and marital discordance was found to be significantly high in patient families. Our study revealed a decrease in the constipation rate with the increasing education level of parents, higher rate of constipation in families with less income than expenses, and lower rate of working mothers in patients with constipation. Parents' depressive symptoms and anxiety level were determined to be considerably higher. CONCLUSION: A mother's low education level, low socioeconomic level, presence of psychological symptoms, and problems of parental attitude-primarily the authoritarian attitude-increase the risk of FC occurrence. Therefore, FC patients and their families should definitely undergo a psychosocial assessment.

The overlap of gastroesophageal reflux disease and functional constipation in children: the efficacy of constipation treatment.

OBJECTIVES: This study was designed to investigate the frequency of gastroesophageal reflux disease (GERD) in children with functional constipation (FC). It was structured to assess the improvement level in reflux symptoms by measuring the acid reflux in these patients after they had received FC treatment. METHODS: Ninety-four children who suffered from constipation were evaluated prospectively. Data forms were completed to assess the GERD symptoms in all the cases. Twenty-four-hour pH meter monitoring was performed in 55 of the patients with GERD symptoms. The cases with abnormal acid reflux were treated by conventional therapy for FC. These cases were re-evaluated for GERD symptoms and weekly defecation frequency, and 24-h pH meter monitoring was performed at the end of a 3-month period. RESULTS: An abnormal level of acid reflux was determined in 23 of the 55 cases. After the constipation treatment, a significant improvement was achieved in the acid reflux index and GERD symptoms, whereas the weekly defecation frequency increased. CONCLUSION: GERD is a frequent problem in children with FC. Treatment of the constipation can improve the reflux symptoms and abnormal acid reflux in these cases. Physicians should bear in mind the co-occurrence of these two prevalent problems for better disease management.

Clarithromycin resistance and 23S rRNA gene point mutations of Helicobacter pylori infection in children.

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.