Abstract:
BACKGROUND:ILNEB constitute an autosomal recessive disorder caused by homozygous or compound heterozygous mutation of the gene for the ITGA3. To date, 8 ILNEB patients have been reported, but all 6 neonatal-onset ILNEB patients suffered early death within 2 years. The most common cause of death among previously reported ILNEB patients was exacerbation of the respiratory condition. METHODS:In this study, we describe a case of ILNEB with neonatal onset in a female patient and the genetic and histopathological testing performed. RESULTS:Our patient had a compound heterozygous mutation in ITGA3. Compared to previously reported patients, this patient exhibited milder clinical and histopathological characteristics. After experiencing a life-threatening respiratory infection at 8 months old, the patient started periodic subcutaneous immunoglobulin treatment once every 1-2 weeks for nephrotic-range proteinuria-induced secondary hypogammaglobulinemia. At the age of 3 years, proteinuria gradually increased with severe edema despite strict internal management. Therefore, our patient underwent unilateral nephrectomy and insertion of a peritoneal dialysis catheter followed by another unilateral nephrectomy. One month later, she underwent an ABO-compatible living-donor kidney transplantation at the age of 4 years. CONCLUSIONS:Our patient is a neonatal-onset ILNEB patient who survived for more than 2 years and underwent successful kidney transplantation.
journal_name
Pediatr Transplantjournal_title
Pediatric transplantationauthors
Okamoto T,Nakamura A,Hayashi A,Yamaguchi T,Ogawa Y,Natsuga K,Yanagi K,Hotta Kdoi
10.1111/petr.13971subject
Has Abstractpub_date
2021-01-20 00:00:00pages
e13971eissn
1397-3142issn
1399-3046pub_type
abstract::This report describes a successful renal Tx in a patient with chronic renal failure, caused by dysplastic kidneys, who received a cadaveric kidney with post-infectious glomerulonephritis. Sequential renal biopsies were performed at 12 h before Tx, and at 1 h and on days 8 and 58 post-Tx. Post-operative hematuria disap...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2000.00076.x
更新日期:2000-02-01 00:00:00
abstract::This study examined patient-reported sleep quality in a single-center cross-sectional sample of adolescents with solid organ transplants and evaluated associations between sleep quality, psychosocial functioning (ie, depression/anxiety symptoms), and HRQOL. Health disparities associated with minority race/ethnicity an...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13577
更新日期:2019-12-01 00:00:00
abstract::BKV reactivation is associated with impaired graft function in kidney transplant patients. The objective of our study was to determine the prevalence of BKV infection in consecutive pediatric kidney transplant recipients at our center. Fifty-eight pediatric kidney transplant recipients were studied. The mean age at sc...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2011.01640.x
更新日期:2012-03-01 00:00:00
abstract::HSCT has substantially improved pediatric acquired SAA patients' outcomes. Retrospectively, we attempted to assess the outcome of MRD HSCT in 65 pediatric patients referred to a single center from 1992 to 2012. We were particularly interested to find out whether source of SC (PB, n = 40 and BM, n = 25) significantly i...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12458
更新日期:2015-06-01 00:00:00
abstract::The aim of the study was to evaluate the cognitive and emotional development after pediatric liver transplantation. A total of 21 patients, aged 4-16.9 yr (median 9.6 yr) were tested 1-9 yr (median 4.2 yr) after the transplantation. The pretransplant diagnoses included biliary atresia (eight patients), various metabol...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2003.00081.x
更新日期:2003-10-01 00:00:00
abstract::Organ transplant is life-saving and any given organ may be valuable to a multitude of potential recipients. An allocation system must be used to reconcile the difference between supply and demand, and this system must take into account the impact that accepting international patients may have on the local system. The ...
journal_title:Pediatric transplantation
pub_type: 杂志文章,评审
doi:10.1111/petr.12769
更新日期:2016-09-01 00:00:00
abstract::Recurrent FSGS is a major challenge in the field of nephrology. To clarify the role of NPHS2 defects in the pathogenesis of FSGS recurrence, we sequenced all eight exons of NPHS2 in 11 Japanese pediatric FSGS patients with or without post-transplant recurrence. All patients had biopsy-proven primary FSGS, had no famil...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2007.00752.x
更新日期:2008-05-01 00:00:00
abstract:PURPOSE:The understanding of the HRQOL issues for parent donors of children who underwent LDLT is lacking. We evaluated the HRQOL of donor and non-donor parents, described their subjective experiences and identified factors associated with lower HRQOL post-donation. METHODS:This is a cross-sectional study of parent do...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13337
更新日期:2019-03-01 00:00:00
abstract::This study reports the clinical complication and infection rates of an active pediatric IT program that has never utilized bowel decontamination in either the donor or the recipient. All patients undergoing IT from 2003 to 2015 at a single pediatric IT center were reviewed. Post-transplant surgical, infectious, and im...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13164
更新日期:2018-05-01 00:00:00
abstract::Post-transplantation biliary strictures occur in 5-15% of the pediatric liver transplant patients and are conventionally managed by interventional radiological techniques. Failure of this treatment leads to reoperation and sometimes to retransplantation. Herein, we describe a surgical approach and interventional radio...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2004.00212.x
更新日期:2004-10-01 00:00:00
abstract::Delayed recovery of thrombocytopenia is a well-known complication after allogeneic HSCT. Eltrombopag (ELT), a thrombopoietin receptor agonist (TRAs), induces platelet maturation and release. Mostly conducted in adults, some of the previous studies have shown that ELT seems to enhance platelet recovery for post-allogen...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13962
更新日期:2021-01-16 00:00:00
abstract::Tacrolimus-based immunosuppression in pediatric liver transplant recipients is known to be associated with EGID. Our goal was to determine the incidence, risk factors, and characteristics of EGID in our pediatric liver transplantation program. This study was a retrospective analysis of 38 pediatric liver transplant re...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2007.00693.x
更新日期:2007-08-01 00:00:00
abstract::EPVO is a common cause of prehepatic portal hypertension in pediatric patients and sometimes results in cavernous transformation of the PV. We herein present the cases of two patients who underwent LDLT for EPVO with post-Kasai biliary atresia. PV reconstruction was performed with a porto-left gastric vein anastomosis...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12067
更新日期:2013-05-01 00:00:00
abstract::aHUS is caused by the over-activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after re...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13914
更新日期:2020-11-20 00:00:00
abstract::Since December 1995, pediatric renal transplant recipients in our unit have received a DMSA scan as soon as possible post-transplant in order to provide a baseline for comparison in the event of subsequent complications. We retrospectively reviewed the case notes and DMSA scans of the 45 patients who underwent a scan ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1046/j.1399-3046.2003.00073.x
更新日期:2003-12-01 00:00:00
abstract::The risk of adverse outcomes for pediatric renal transplant patients is highest during the transition from pediatric to adult care. While there have been many studies focus on graft failure and death, loss to follow-up likely plays a large role in patient outcomes. We hypothesize patients are lost to follow-up during ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13547
更新日期:2019-11-01 00:00:00
abstract::The outcomes of pediatric ventricular assist device support in patients with diastolic heart failure have not been well described. This study reviews the North American experience with Berlin Heart EXCOR® ventricular assist device implants in children with such physiology. The Berlin Heart clinical database was review...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13048
更新日期:2017-12-01 00:00:00
abstract::Patients with defects in the ATP6AP1 gene have rarely been described. ATP6AP1-related disorders are a subtype of CDG, which result in enzyme deficiencies affecting multiple organ systems ranging from mild to life-threatening. Of the 13 patients described, all had hepatopathy, but this is the first case to be successfu...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13808
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:In adults, the time of day for LT does not affect post-transplant outcomes. Whether this is true or not in children is unknown. In this study, we aimed to evaluate if weekend and weeknight liver transplants are associated with worse patient and graft survival in children. METHODS:We interrogated the UNOS da...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13826
更新日期:2020-12-01 00:00:00
abstract::In areas of the world where human herpesvirus 8 (HHV-8) is endemic, Kaposi sarcoma (KS) is a common SOT-associated cancer. In the United States, where the virus is not prevalent, PTKS is rare, and there is little literature on pediatric PTKS. We present a North American female who underwent deceased donor, left latera...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13384
更新日期:2019-05-01 00:00:00
abstract::In patients with myocytolysis detected in endomyocardial biopsy, there is a tendency towards a shift of ventricular electrical axes from normal to strain pattern on surface ECG. Their 12-lead signal-averaged electrocardiogram (SAECG) show a significant increase in filtered QRS duration (QRSD) compared with those with ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2005.00384.x
更新日期:2005-12-01 00:00:00
abstract::PMF of infancy is a recently described autosomal recessive disorder presenting with severe bone marrow failure, accelerated neutrophil apoptosis, and significant platelet dysfunction, caused by a mutation in the VPS45 gene. In this study, we update our group of patients with PMF, highlighting different aspects of this...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12169
更新日期:2013-12-01 00:00:00
abstract::LI is a subset of the heterotaxy syndrome and a rare birth defect that involves the heart and other organs. It can be combined with extracardiac abnormalities, especially BA. CHD can be associated with LI in up to 15% of cases, although it is rare in BA. Pediatric LT for a child with ESLD due to BA combined with LI an...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12364
更新日期:2014-12-01 00:00:00
abstract::To evaluate the effects of gender on HRQOL and overall health status in our pediatric kidney transplants. We performed a cross-sectional study in 77 children who received living renal allo-transplants in our center between 1981 and 2003. The patients were given a questionnaire at a post-transplant visit. After complet...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2009.01174.x
更新日期:2010-03-01 00:00:00
abstract::HTN after renal transplantation is associated with cardiovascular morbidity. ABPM allows diagnosis of masked HTN and isolated nocturnal HTN. Longitudinal ABPM data in children post-transplant are limited. ABPM was performed in children post-transplant and repeated in 6-12 months. BP indices were used to determine the ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13710
更新日期:2020-06-01 00:00:00
abstract::Approximately 800 pediatric renal transplants are performed annually in the United States. VUR or obstruction may cause graft failure requiring redo ureteroneocystostomy. We examined possible risk factors and cost using the PHIS national database. We examined the PHIS for 8.5 yr to determine the association between re...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12522
更新日期:2015-08-01 00:00:00
abstract::IMI are emerging as an important cause of mortality and morbidity among the growing number of immunocompromised children. A retrospective chart review was performed in all patients with a proven diagnosis of IMI over an eight-yr period (1997-2004) at The Hospital for Sick Children, Toronto, Canada to document the inci...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2008.01056.x
更新日期:2009-08-01 00:00:00
abstract::The thymus gland possesses the ability to regrow in children leading to a newly developed anterior mediastinal mass. This condition may represent a rebound phenomenon during recovery from a stressful event such as post-chemotherapy and hence was described as RTH. RTH after LT has not been well documented. We are repor...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13251
更新日期:2018-07-24 00:00:00
abstract::Children undergoing liver transplantation are at a significant risk for intraoperative hemorrhage and thrombotic complications, we aim to identify novel risk factors for massive intraoperative blood loss and transfusion in PLT recipients and describe its impact on graft survival and hospital LOS. We reviewed all prima...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13449
更新日期:2019-06-01 00:00:00
abstract::Since the discovery of hepatitis C virus (HCV) in 1989, significant advances have been made in our understanding of this important viral pathogen. Children at risk for HCV infection include recipients of potentially contaminated blood products and organ transplants, and infants born to HCV-infected mothers. Chronic HC...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2004.00250.x
更新日期:2004-12-01 00:00:00