ABSTRACT
BACKGROUND: Autoimmune atrophic gastritis (AIG) is very rare in children. Despite a better understanding of histopathologic changes and serological markers in this disease, underlying etiopathogenic mechanisms and the effect of Helicobacter pylori (H pylori) infection are not well known. We aimed to investigate the relation between AIG and H pylori infection in children. MATERIALS AND METHODS: We evaluated the presence of AIG and H pylori infection in fifty-three patients with positive antiparietal cell antibody (APCA). Demographic data, clinical symptoms, laboratory and endoscopic findings, histopathology, and presence of H pylori were recorded. RESULTS: The children were aged between 5 and 18 years, and 28 (52.8%) of them were male. Mean age was 14.7 ± 2.6 years (median: 15.3; min-max: 5.2-18), and 10 (18.8%) of them had AIG confirmed by histopathology. In the AIG group, the duration of vitamin B12 deficiency was longer (P = .022), hemoglobin levels were lower (P = .018), and APCA (P = .039) and gastrin (P = .002) levels were higher than those in the non-AIG group. Endoscopic findings were similar between the two groups. Intestinal metaplasia was higher (P = .018) in the AIG group. None of the patients in the AIG group had H pylori infection (P = .004). One patient in the AIG group had enterochromaffin-like cell hyperplasia. CONCLUSIONS: Our results show that, in children, H pylori infection may not play a role in AIG. AIG could be associated with vitamin B12 deficiency, iron deficiency, and APCA positivity in children. APCA and gastrin levels should be investigated for the early diagnosis of AIG and intestinal metaplasia.
Subject(s)
Autoimmune Diseases/etiology , Gastritis, Atrophic/etiology , Helicobacter Infections/complications , Adolescent , Anemia, Iron-Deficiency/complications , Child , Child, Preschool , Female , Gastrins/metabolism , Helicobacter pylori/isolation & purification , Humans , Male , Metaplasia/complications , Parietal Cells, Gastric/pathology , Retrospective Studies , Stomach/pathology , Vitamin B 12 Deficiency/complicationsSubject(s)
Cystic Fibrosis/diagnosis , Hepatitis, Autoimmune/diagnosis , Portal Vein/abnormalities , Vascular Malformations/diagnosis , Ataxia/etiology , Child , Child, Preschool , Cholestasis/etiology , Cystic Fibrosis/therapy , Diagnosis, Differential , Disorders of Excessive Somnolence/etiology , Failure to Thrive/etiology , Fatigue/etiology , Female , Hepatitis, Autoimmune/therapy , Humans , Infant , Jaundice/etiology , MaleABSTRACT
Berberoglu-Ates B, Varan A, Demir H, Akyüz C, Yüce A. Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. Turk J Pediatr 2019; 61: 449-452. Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid ß-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involvement. Retinoblastoma is a malignant tumor of the developing retina that occurs in children, typically before the age of five. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. The association between GD and retinoblastoma has not been reported until now. Here we report the case that was diagnosed with, retinoblastoma at the age of 2 months and then GD at the age of 11 months. Although there are controversies concerning the association between GD and cancer; malignancies should be kept in mind during GD patients follow up.
Subject(s)
Gaucher Disease/complications , Glucosylceramidase/genetics , Mutation , Retinal Neoplasms/complications , Retinoblastoma/complications , DNA Mutational Analysis , Gaucher Disease/diagnosis , Gaucher Disease/genetics , Glucosylceramidase/metabolism , Humans , Infant , Male , Retinal Neoplasms/diagnosis , Retinal Neoplasms/genetics , Retinoblastoma/diagnosis , Retinoblastoma/geneticsABSTRACT
Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease. Abnormal lipid laden macrophages are thought to be responsible for stimulating the secretion of chitotriosidase in Gaucher disease. Subsequently, various disorders have also been found to be associated with elevated levels of chitotriosidase. Chronic liver diseases that are also related with macrophage activation may have elevated chitotriosidase activity. We report the second case of the literature with glycogen storage disease (GSD) type IV that presented with high chitotriosidase levels. GSD type IV should be taken into consideration in case of elevated chitotriosidase levels, stigmas of chronic liver disease, and inconsistency of lysosomal storage diseases.