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 disease, and evaluating the effectiveness of HSCT for the treatment of this disorder. Update of clinical data, hematological features, molecular studies, treatment and final outcome of four children diagnosed with VPS 45-associated PMF of infancy. The patients described had clinical and hematological findings consistent with MF. Molecular studies showed that all patients were homozygous for the Thr224Asn mutation in the VPS 45 gene. HSCT was carried out in three patients and was successful in two. VPS 45-associated MF is a novel primary immune deficiency that can be successfully corrected by HSCT if applied early in the course of disease using appropriate conditioning. The diagnosis of VPS 45-associated PMF should be considered in all children presenting with SCN with subsequent development of pancytopenia. Long-term follow-up of these patients is necessary to identify extra-hematological manifestations of VPS45 deficiency.
journal_name
Pediatr Transplantjournal_title
Pediatric transplantationauthors
Stepensky P,Simanovsky N,Averbuch D,Gross M,Yanir A,Mevorach D,Elpeleg O,Weintraub Mdoi
10.1111/petr.12169subject
Has Abstractpub_date
2013-12-01 00:00:00pages
820-5issue
8eissn
1397-3142issn
1399-3046journal_volume
17pub_type
杂志文章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::Pharmacokinetic studies in adult and pediatric liver transplant recipients have shown that the C(2) monitoring is superior to the traditional determination of CsA trough levels (C(0)) as an estimate of CsA exposure. However, target reference values for C(2) in very small infants have not been established yet. The obje...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1046/j.1399-3046.2003.00138.x
更新日期:2004-04-01 00:00:00
abstract::Nephrotic syndrome is characterized by proteinuria, hypoalbuminemia, and general edema. These symptoms may persist in children who reach ESRD, which is unfavorable for the patient's allograft outcome. In addition, this may hamper early diagnosis of a relapse after transplantation. Surgical bilateral nephrectomy is oft...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13703
更新日期:2020-06-01 00:00:00
abstract::RVIs are a significant cause of morbidity and mortality in immunocompromised children. We analyzed the characteristics and outcomes of infection by four respiratory viruses (RSV, adenovirus, influenza, and parainfluenza) treated at a pediatric tertiary care hospital in a retrospective cohort of patients who had receiv...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12022
更新日期:2013-03-01 00:00:00
abstract::This review details the indications for heart transplantation in children. Contraindications have evolved from absolute to relative. Controversial issues remain and this paper represents a consensus of more than a dozen centers that have programs that remain active performing pediatric heart transplants. ...
journal_title:Pediatric transplantation
pub_type: 杂志文章,评审
doi:10.1034/j.1399-3046.1999.00045.x
更新日期:1999-11-01 00:00:00
abstract::Little has been studied regarding the diets of children following LTX. The study aim was to assess and compare dietary intake and DQ of healthy children and children post-LTX. Children and adolescents (2-18 years) post-LTX (n=27) and healthy children (n=28) were studied. Anthropometric and demographic data and two 24-...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12944
更新日期:2017-09-01 00:00:00
abstract::The availability of new and more effective anti-rejection therapy has succeeded in reducing the incidence of acute cellular rejection in first months post-renal transplant. This in turn has escalated the order of significance of recurrence of primary disease in the renal allograft as a cause for patient morbidity and ...
journal_title:Pediatric transplantation
pub_type: 杂志文章,评审
doi:10.1046/j.1399-3046.2003.00151.x
更新日期:2004-04-01 00:00:00
abstract::The clinical significance and prognostic impact of IRFR in pediatric recipients of haploidentical SCT are not clearly understood. Therefore, we attempted to determine how IRFR affects clinical outcomes in children. Clinical data from 100 consecutive pediatric patients (60 boys and 40 girls; median age, 12 yr [range, 2...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12586
更新日期:2015-12-01 00:00:00
abstract::An increased frequency of infections has been reported in patients with chronic liver disease. The tendency of patients in this population to acquire UTI is not completely understood. We aimed at investigating the incidence of UTI in children with cirrhosis, before liver transplantation. Twenty-six children (9 girls, ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2006.00674.x
更新日期:2007-06-01 00:00:00
abstract::Calcineurin inhibitors post-renal transplantation are recognized to cause tubulopathies in the form of hyponatremia, hyperkalemia, and acidosis. Sodium supplementation may be required, increasing medication burden and potentially resulting in poor compliance. Fludrocortisone has been beneficial in addressing tubulopat...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13134
更新日期:2018-03-01 00:00:00
abstract::In the past 20 yr, a dramatic improvement has been achieved in the outcome of children with hepatoblastoma by combining cisplatin based chemotherapy and surgery. Treatment of patients in the USA is an exception to the rule that all patients should receive neoadjuvant chemotherapy. It is paramount that surgical resecti...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2005.00354.x
更新日期:2005-10-01 00:00:00
abstract::The aim of the study was to demonstrate clinical course of the first reported cases of PLS in pediatric kidney transplantation and therapeutic outcome for such condition using a combination of high-dose corticosteroid and tacrolimus. We report a single case (a nine-year-old Thai boy) with end-stage kidney disease seco...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2006.00560.x
更新日期:2006-09-01 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::Cystic fibrosis (CF) is associated with varying degrees of pleural inflammatory reaction that occurs as a result of chronic pulmonary infections and intervention to pleural space. The amount of pleural reaction is associated with the difficulty involved when performing the pneumonectomy at the time of lung replacement...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract::We examined SCC development of 24 FA patients, who received HSCT from HLA-matched relatives. In our BMT center, we applied low-dose CY + LFI + ATG (n:13) as conditioning regimen for FA patients between 1992 and 1999, and CY + BU + ATG (n:11) between 1999 and 2002. The aim of this study was to investigate SCC developme...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13706
更新日期:2020-06-01 00:00:00
abstract::We studied restoration of the coagulation and fibrinolysis system in pediatric patients following liver transplantation and biomarkers of blood coagulation and fibrinolysis for suspecting the occurrence of acute cellular rejection. Coagulation activity recovered rapidly within two days following transplantation, but i...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2009.01248.x
更新日期:2010-05-01 00:00:00
abstract::Rural status of patients may impact health before and after pediatric LT. We used UI codes published by the USDA to stratify patients as urban or rural depending county residence. A total of 388 patients who had LT and who met criteria were included. Rejection, PTLD, and survival were used as primary outcome measures ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2010.01452.x
更新日期:2011-05-01 00:00:00
abstract::Total body irradiation and high-dose chemotherapy, applied as a preparatory regimen for bone marrow transplantation (BMT) in children with acute lymphoblastic leukemia (ALL), are particularly hazardous to the gonads and, in addition, can impair hypothalamo pituitary-gonadal control. Longitudinal data on pubertal devel...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.1999.00006.x
更新日期:1999-02-01 00:00:00
abstract::DTI indices have been associated with cellular rejection in adult heart transplant recipients, but their predictive value in pediatric recipients is unknown. The purpose of this study was to evaluate DTI measures in the detection of cellular and AMR in pediatric heart transplant recipients. One hundred and forty-eight...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2007.00812.x
更新日期:2008-03-01 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::Paediatric HR T-cell ALL demonstrates dismal prognosis with chemotherapy, and poor outcomes could be improved with allo-SCT. HID-SCT is an almost immediately available choice; however, few studies have focused on the outcomes of HID-SCT for paediatric HR T-ALL. Forty-eight consecutive HR T-ALL children who underwent H...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12704
更新日期:2016-06-01 00:00:00
abstract::Nonalcoholic steatohepatitis (NASH) is the most severe form of non-alcoholic fatty liver disease (NAFLD). The aim of our study was to highlight NASH as a rare but possible problem in children. We present a case of 13-yr-boy with a well-established diagnosis of liver cirrhosis secondary to NASH, who underwent orthotopi...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2007.00767.x
更新日期:2007-11-01 00:00:00
abstract::Rejection remains a major threat in pediatric renal transplantation (Tx), causing graft failure and increased exposure to drugs. The new chimeric antibody, basiliximab, directed against the alpha-chain of the interleukin-2 receptor (IL-2R), has been shown to be effective in preventing rejection episodes in adult renal...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2001.005004297.x
更新日期:2001-08-01 00:00:00
abstract::CNL is a rare myeloproliferative disorder frequently seen in older adults. A significant proportion of patients show progression to AML. Here, we report the case of a patient with FA who was monitored for leukopenia but who developed leukocytosis during the follow-up and was diagnosed with CNL probably after an acquir...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13199
更新日期:2018-08-01 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::Psychomotor development in pediatric liver transplant (LT) recipients depends on several factors. Our aim was to evaluate the importance of parental involvement and family dynamics on psychomotor development by assessing (i) children and parents individually, (ii) the parent-child relationship, and (iii) the correlati...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12080
更新日期:2013-06-01 00:00:00
abstract::Renal transplantation remains the therapy of choice for children and adolescents with ESRD. Differences in graft survival are observed in kidney transplant recipients of different race and ethnicities. Data in pediatric populations are limited and confounded by disparities in access to health care. We performed a retr...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2008.01074.x
更新日期:2009-11-01 00:00:00
abstract:UNLABELLED:Nephrotoxicity caused by CNI may adversely affect long-term graft outcomes. For this reason, we have adopted a protocol for withdrawing TAC and converting to SRL at three months post-renal transplantation. All recipients received basiliximab induction and TAC, MMF, and prednisone. Patients without acute reje...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2008.00906.x
更新日期:2008-11-01 00:00:00
abstract::Although the majority of pediatric solid organ transplant centers in the United States employ psychosocial criteria to assess the suitability of potential transplant candidates, there are no standardized pretransplant psychosocial assessment measures. Assessment scales that have been developed were designed for adult ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2007.00785.x
更新日期:2008-02-01 00:00:00
abstract::We report the occurrence of epididymitis and orchitis 1 week after the onset of Listeriosis in an 11-month-old boy receiving an orthotopic liver transplantation for biliary atresia. Immunologic implications of Listeria monocytogenes-induced testicular inflammation are discussed, and the potential role of immunosuppres...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2000.00113.x
更新日期:2000-05-01 00:00:00