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.

Does the use of proton pump inhibitors in children affect ventricular repolarisation parameters?

Proton pump inhibitors are widely used agents in the treatment of dyspepsia, and their effects on ventricular repolarisation through ion channels are well-known. Our aim is to evaluate the change in ventricular repolarisation parameters on electrocardiogram before and after proton pump inhibitor treatment. This study included 69 patients who had symptoms such as burning stomach pain, bloating, nausea, and heartburn for at least 3 months. Electrolyte levels of the patients were measured before and after treatment, and 12-lead electrocardiograms were taken at the initial and 1st month follow-up visit. Heart rate, QT interval, corrected QT (QTc), QT dispersion (QTd), QTc dispersion (QTcd), Tp-e measurements, and Tp-e/QT ratio were calculated and compared. Thirty-nine of the patients were girls, 30 were boys, and the mean age was 13.16 ± 3.02 years. Electrolyte levels of the patients before and after treatment were within the normal range. There was no statistically significant difference in the QTc, the Tp-e duration, or the Tp-e/QT ratio of the patients before and after treatment. We did not find a significant prolongation in the QTc duration or any other ventricular repolarisation parameters after proton pump inhibitor treatment in children with dyspepsia. We did not observe ventricular arrhythmia in our patients during follow-up. However, different results might be obtained with a larger sample and a longer follow-up period. These patients may have an increased risk of developing ventricular arrhythmias. Therefore, precaution should be taken when using drugs that prolong the QT period, and follow-up with serial electrocardiograms should be planned.

Aplastic Anemia Frequency and Management in Pediatric Liver Transplantations Due to Non-A-E Hepatitis.

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.

Validity and reliability analysis of the Turkish version of pediatric nutritional risk score scale.

BACKGROUND/AIMS: We aimed to perform the validity and reliability analysis of the Turkish version of the Pediatric Nutritional Risk Score (PNRS). MATERIALS AND METHODS: The study group consisted of 149 patients aged between 1 month and 18 years who were admitted to the hospital for at least 48 h. The patients' age, gender, anthropometric measurements, length of stay, admission diagnosis, daily body weights, food consumption, and pain status were recorded. Backward and forward translations into Turkish were done. PNRS was performed by two different physicians. The consistency of the PNRS results was evaluated to determine the validity of PNRS. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. RESULTS: Of all patients, 69 (46.3%) were female and 80 (53.7%) were male. The mean length of the stay was 7.3±4.0 days. The mean age of the patients was 51.9±63.6 months. The Kappa coefficient between the two physicians was 0.66. Weight loss was observed in 65.2% of the patients in the high-risk group and 25.4% in the low-risk group. The hospital malnutrition rate was 31.5%. A higher risk was identified in those with <50% food intake and more severe disease. The specificity, sensitivity, NPV, and PPV of PNRS were 82.1%, 77.8%, 92.0%, and 58.3%, respectively. CONCLUSION: A good consistency suggests that the Turkish validation was achieved successfully. The power of PNRS to discriminate the patients with moderate-low risk of developing malnutrition is higher than the patients with high risk. PNRS is considered a valid and reliable tool to establish the risk of malnutrition in the hospitalized patients.

Two siblings with Gaucher type 3c: different clinical presentations.

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.

Efficacy and safety of long-term thiopurine maintenance treatment for ulcerative colitis in Turkey: A single-center experience.

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.