Spontaneous Resolution of Vesicoureteral Reflux (VUR) in Iranian Children, a Single Center Experience in 533 Cases

Background and ObjectivesExperience with vesicoureteral reflux (VUR) differs in different centers and there are lots of controversies surrounding this issue. The aim of this study was to evaluate Spontaneous resolution and prognosis of the disease among Iranian children.MethodsIn this case series study, 1278 children with urinary tract infection and visited at pediatric nephrology clinic in Tehran, Iran during 1999-2007 were studied. Primary VUR was found in 533 Patients. Following the diagnosis, the patients received prophylactic antibiotic and were annually followed with radionucleo cystography (RNC). Patients underwent surgery in case the medical treatment failed (breakthrough infection) or new renal scar formation.Results533 patients with VUR were studied. Patients’ mean age with VUR was 3.7±2.4 years (range: 2 days to 18 years old). During an average follow-up duration of 3.3+2.2 years, spontaneous resolution was observed in 40% of 279 patients who had follow-up RNCs. The mean interval between VUR diagnosis and spontaneous resolution was 1.5+ 1 years (range: 2 months to 6 years). The resolution rate was decreased with increment of reflux grade so that for grades I to V, VUR was resolved in 63%, 57%, 27%, 22% and 10% of the cases, respectively. Anti reflux surgery was performed in 27(10%) of patients during follow-up.ConclusionBased on the excellent results obtained from clinical therapy using low dose antibiotics, it is recommended that VUR grades 1 to 4 be managed medically with low-dose oral antibiotic prophylaxis and close follow-ups.Keywords: Urinary Tract Infection; Vesico-Ureteral Reflux; Spontaneous Resolution; Child

Autoimmune Manifestations among Patients with Monogenic Inborn Errors of Immunity

BACKGROUND: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunological, and molecular data of monogenic IEI patients with and without autoimmune manifestations. METHODS: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. RESULTS: A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study. Overall, 331 patients (72.1) were born to consanguineous parents. At the time of the study, 330 individuals (75.7) were alive and 106 (24.3) were deceased. Autoimmunity was reported in 92 (20.0) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0-7.0) years. Sixteen patients (3.5) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0), ATM (in 13 patients, 14.0), and BTK (in 9 patients, 10.0) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100), 3 of 3 AIRE (100), 21 of 30 LRBA (70.0) mutated genes had the highest prevalence of autoimmunity. CONCLUSIONS: Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next generation sequencing (due to phenocopies of IEI genes) to discover responsible genes for the immune dysregulation at an early stage of the disease