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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
ABSTRACT: Acquired coagulopathy is a rare but challenging diagnosis for pediatric emergency physicians. Although the coagulopathy usually presents with mild skin and mucosal hemorrhages, it also can lead to life-threatening events. Thus, accurate interpretation of hints obtained from a detailed history, physical examination, and laboratory findings is essential for the prompt diagnosis and management. This case demonstrates an uncommon cause of coagulopathy; celiac disease that presented with spontaneous bruises and ecchymosis in an adolescent.
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Enfermedad Celíaca , Contusiones , Adolescente , Niño , Equimosis , Humanos , Examen FísicoRESUMEN
PURPOSE: In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Today, breastfeeding is encouraged and well established in PKU patients. The aim of the present study is to investigate the prevalence and duration of breastfeeding, the effect of breastfeeding on serum Phe levels, and weight gain in infants with PKU. DESIGN AND METHODS: Data were collected from chart reviews. Medical records of 142 children with PKU diagnosed via the national neonatal screening program were analyzed retrospectively. RESULTS: Of the 41 infants with complete medical records, 40 (97.6%) were breastfed following delivery whereas only one (2.4%) was bottle fed. After the diagnosis, breastfeeding was continued in 25 (61%) infants with phenylalanine-free amino acid based protein substitute. The mean duration of breastfeeding was 7.4±4.0 (1-15) months. Serum Phe concentration of breastfed infants (280±163 µmol/L) was significantly lower than non-breastfed infants (490±199 µmol/L) (p<0.001). Mean monthly weight gain in the first year of life was significantly higher in breastfed patients (493±159 g/month) compared to non-breastfed patients (399±116 g/month) (p=0.046). CONCLUSION: In the first year of life, weight gain and serum Phe levels were more favorable in breastfed infants with PKU compared to non-breastfed infants with PKU.
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Lactancia Materna/métodos , Desarrollo Infantil/fisiología , Leche Humana/química , Fenilalanina/sangre , Fenilcetonurias/sangre , Fenilcetonurias/epidemiología , Análisis de Varianza , Lactancia Materna/efectos adversos , Distribución de Chi-Cuadrado , Toma de Decisiones Clínicas , Estudios de Cohortes , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Tamizaje Neonatal , Prevalencia , Estudios Retrospectivos , Medición de Riesgo , Estadísticas no Paramétricas , Factores de Tiempo , Turquía , Aumento de PesoRESUMEN
BACKGROUND/AIMS: Achalasia is a primary motility disorder characterized by a relaxation disorder of the lower esophageal sphincter. In pneumatic balloon dilatation, which is one of the treatment methods, the muscle fibers are torn with an endoscopically inflated balloon in the lower esophageal sphincter. This study aimed to evaluate the results of long-term pneumatic balloon dilatation treatment in our clinic for children diagnosed with achalasia. MATERIALS AND METHODS: Pediatric patients who underwent pneumatic balloon dilatation with a diagnosis of achalasia in our pediatric gastroenterology clinic between 2016 and 2021 were included in the study. Demographic data of the patients, clinical findings at diagnosis, and follow-up results were evaluated retrospectively. RESULTS: Ten patients who underwent 18 pneumatic balloon dilatation operations were included in the study. The mean follow-up period of the patients was 23.7 ± 14.1 months. It was observed that the procedure was performed once in 3 (30%) patients, twice in 2 (20%) patients, and 3 times in 3 (30%) patients. It is noteworthy that the diameter of the balloon used in the first procedure in patients who needed repeated operations was less than 30 mm. No complications were observed except for chest pain, which was detected in 1 patient. CONCLUSION: When the patients who needed recurrent dilatation were evaluated, it was noted that the diameter of the balloon in which the first procedure was performed in these patients was smaller. This study is an important contribution to the literature due to the scarcity of the pediatric achalasia data, in which long-term results related to pneumatic balloon dilatation are reported in Turkey.
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Acalasia del Esófago , Humanos , Niño , Acalasia del Esófago/cirugía , Resultado del Tratamiento , Dilatación/métodos , Estudios Retrospectivos , Manometría , Dilatación PatológicaRESUMEN
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.
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BACKGROUND: Given that procedures involving gastrointestinal tract lumens are high-risk and aerosol forming, the functioning of endos- copy units has been reorganized during the coronavirus disease 2019 pandemic. Guidelines recommend that all personnel should carry out procedures in a negative-pressure room with personal protective equipment; in the absence of a negative-pressure room, an ade- quately ventilated room should be used. During the normalization of the coronavirus disease 2019 pandemic, this study aimed to evalu- ate children who were treated in our endoscopy unit without a negative-pressure chamber in terms of coronavirus disease 2019 after procedures. METHODS: Patients were questioned and evaluated prospectively for symptoms and contact with coronavirus disease 2019 patients on before and 7th and 14th days after the procedure. RESULTS: Seventy-eight procedures were performed on 69 patients over a 3-month period. The mean age of patients was 12.0 ± 5.1 years. Among all the procedures performed, 54 (69.2%) involved upper gastrointestinal system (GIS) endoscopy and 24 (30.8%) involved colo- noscopy. Furthermore, 72 (91.3%) of the procedures were performed in the pediatric endoscopy unit, and 6 (7.7%) were performed in the operating room. No coronavirus disease 2019 symptoms or presence was detected in the patients. CONCLUSION: The ideal setting for an endoscopic procedure is in a negative-pressure chamber. However, this study has shown that endoscopic procedures can be performed in units without negative-pressure rooms but with appropriate protective equipment and evaluation of patients for coronavirus disease 2019 symptoms.
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COVID-19 , Pandemias , Adolescente , COVID-19/prevención & control , Niño , Colon , Endoscopía , Humanos , Pandemias/prevención & control , Equipo de Protección PersonalRESUMEN
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.
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Azatioprina , Hepatitis Autoinmune , Adolescente , Azatioprina/efectos adversos , Niño , Femenino , Hepatitis Autoinmune/diagnóstico , Hepatitis Autoinmune/tratamiento farmacológico , Humanos , Inmunosupresores/efectos adversos , Masculino , Prednisolona/efectos adversos , Estudios RetrospectivosRESUMEN
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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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.
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PURPOSE: Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. METHOD: A total of 141 patients (mean age: 7.1±4.1years [2-18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc.) were included in the study. Serum triglyceride, cholesterol, aminotransferase, bilirubin, protein and albumin levels and abdominal ultrasonography were recorded before and at 1, 3, 6, and 12 months following after diet initiation. RESULTS: The mean duration of KD was 15.9±4.3months. At one month of therapy, three patients had elevated alanine and aspartate aminotransferase levels. These patients were receiving ketogenic diet for Doose syndrome, idiopathic epilepsy and GLUT-1 deficiency. Hepatosteatosis was detected in three patients at 6 months of treatment. Two of these patients were treated with KD for the primary diagnosis of tuberous sclerosis and one for Landau Kleffner syndrome. Cholelithiasis was detected in two patients at 12 months of treatment. They were receiving treatment for West syndrome and hypoxic brain injury sequelae. CONCLUSION: Long-term ketogenic diet treatment stimulates liver parenchymal injury, hepatic steatosis and gallstone formation. Patients should be monitored by screening liver enzymes and abdominal ultrasonography in order to detect these side effects.