Correlation between Toll-like Receptor Gene Polymorphisms and Idiopathic Nephrotic Syndrome in Chinese Children.

OBJECTIVE: Idiopathic nephrotic syndrome (INS) is the most common glomerular disease in children. Toll-like receptors (TLRs) have been reported to be associated with response to steroid treatment in children with INS. Nevertheless, the correlation between TLR genes and the progression of INS has not yet been clarified. The present study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) in TLR2, TLR4, and TLR9 with susceptibility to INS as well as the clinical phenotyping of steroid responsiveness in Chinese children with INS. METHODS: A total of 183 pediatric inpatients with INS were included and given standard steroid therapy. Based on their clinical response to steroids, the patients were classified into three groups: steroid-sensitive nephrotic syndrome (SSNS), steroid-dependent nephrotic syndrome (SDNS), and steroid-resistant nephrotic syndrome (SRNS). A total of 100 healthy children were employed as controls. The blood genome DNA was extracted from each participant. Six SNPs (rs11536889, rs1927914, rs7869402, rs11536891, rs352140, and rs3804099) in TLR2, TLR4, and TLR9 were selected and detected by multiplex polymerase chain reaction with next-generation sequencing to assess TLR gene polymorphisms. RESULTS: Among the 183 patients with INS, 89 (48.6%) had SSNS, 73 (39.9%) had SDNS, and 21 (11.5%) had SRNS. No significant difference was found in the genotype distribution between healthy children and patients with INS. However, the genotype and allele frequencies of TLR4 rs7869402 were significantly different between SRNS and SSNS. Compared with patients with the C allele and CC genotype, patients with the T allele and CT genotype had an increased risk of SRNS. CONCLUSION: TLR4 rs7869402 affected the steroid response in Chinese children with INS. It might be a predictor for the early detection of SRNS in this population.

Non-fluoroscopic percutaneous transcatheter closure of atrial septal defects in children under transesophageal echocardiographic guidance.

BACKGROUND: This study sought to investigate the feasibility, safety and effectiveness of transcatheter closure of atrial septal defects (ASDs) under the guidance of transesophageal echocardiography (TEE) in children. METHODS: We reviewed the medical records of patients who underwent percutaneous ASD closure at our center from August 2016 to December 2017. For a total of 88 patients who were identified as having a single-hole defect and were undergoing percutaneous transcatheter ASD closure, a procedure completely guided by TEE was performed. There were 31 male patients and 57 female patients. The patients' mean age was 60.09 ± 36.42 months (13-182 months), and their mean body weight was 20.16 ± 10.04 kg (9-77 kg). Patients were followed up by performing transthoracic echocardiography and obtaining chest X-rays and electrocardiograms. RESULTS: The transcatheter closure of ASDs was successful in all patients. The mean ASD size was 11.58 ± 5.31 mm (3-28 mm), and the mean size of the occlusion device was 16.07 ± 5.29 mm (6-36 mm). The mean procedural times were 13.33 ± 2.82 minutes (6-16 minutes). The mean hospitalization costs were 27,259.66 ± 2507.04 RMB (25,200.00-33,911.45 RMB). The mean postoperative hospital stay was 3.22 ± 0.53 days (3-5 days). Residual shunt, occlusion device shedding or displacement, and pericardial effusion were not observed during or after the operation. CONCLUSION: Percutaneous transcatheter ASD closure completely guided by TEE is a feasible, safe, non-invasive and easy procedure.