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
BACKGROUND: Hair-related manifestations such as alopecia areata or telogen effluvium were reported during COVID-19 disease. Accelerated hair loss with androgenetic alopecia (AGA) pattern or management has not been discussed before. AIMS: This study aimed to examine the accelerated AGA pattern hair loss and management with PRP treatment. MATERIALS AND METHODS: This study was designed prospectively and nine patients included to study confirmed PCR test for COVID-19 infection. Patients underwent platelet-rich plasma (PRP) injections for 4 sessions. Results were accessed with the hair pull test (HPT) and self-administered hair growth questionnaire (HGQ). RESULTS: Nine patients were admitted with complaints of hair loss after an average of 220 ± 24.2 (min: 182 max: 264) day after recovery of COVID-19. Mean age of the patients was 33.8 ±8.4 years old (min: 26, max: 52). Six (66.7%) patients were male, and three (33.3%) of them were female. HPT score decreased to 6.0 ± 1.6 after the first PRP application (p = 0.007, CI 95%:2.7-5.2) and decreased to 1.2 ± 0.8 after the last PRP session (p = 0.008, CI 95%: 6.4-11.1). Five (55.5%) of the patients described the treatment as "very effective" after treatment with HGQ. CONCLUSIONS: Accelerated hair loss associated with COVID-19 continues in long term and PRP treatment provides a satisfactory solution.
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Alopecia Areata , COVID-19 , Plasma Rico en Plaquetas , Adulto , Alopecia/terapia , Femenino , Humanos , Masculino , SARS-CoV-2 , 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/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment. CLINICAL TRIAL NUMBER: ClinicalTrials.gov Identifier: NCT04457518.
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Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Desnutrición , Niño , Enfermedad Crónica , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/epidemiología , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/epidemiología , Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/etiología , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/epidemiología , Masculino , Desnutrición/complicaciones , Desnutrición/epidemiología , Sobrepeso/complicaciones , Sistema de Registros , Delgadez/complicacionesRESUMEN
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
INTRODUCTION: LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems. CASE PRESENTATION: Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results. CONCLUSION: LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.