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 successfully transplanted. We describe two brothers who developed hyperbilirubinemia shortly after birth and progressed to liver failure, case 1 by 12 months of age, with successful transplant 2 years later, and case 2 by 4 months of age, who passed away while awaiting liver transplant. Both boys were found to have a new variant in the ATP6AP1 gene: c.932/p.Leu311Gln. Although the identified ATP6AP1 gene variant was classified as unknown significance at the time, both children's phenotypes fit with what has been described for ATP6AP1-related disorders. Therefore, this result appears to have been diagnostic for both boys. This rare type of CDG, X-linked immunodeficiency type 47 (OMIM #300972), particularly in patients who progress to liver failure requiring transplant, should be included on the differential of liver failure in infants and toddlers, and its gene should be added to the diagnostic workup for such cases.
journal_name
Pediatr Transplantjournal_title
Pediatric transplantationauthors
Gumm AJ,Basel DG,Thakrar P,Suchi M,Telega Gdoi
10.1111/petr.13808subject
Has Abstractpub_date
2020-12-01 00:00:00pages
e13808issue
8eissn
1397-3142issn
1399-3046journal_volume
24pub_type
abstract::The aim of this study was to determine whether living related liver transplantation has an immunological advantage compared with cadaveric liver transplants in children. The records of 100 pediatric primary liver transplant recipients performed between January 1992 and December 1998 at the University of California, Sa...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2002.02013.x
更新日期:2002-08-01 00:00:00
abstract::We sought to examine the relationship between liver transplant-related total cost, patient outcome, and hospital resource utilization at freestanding children's hospitals. Using the PHIS database, a retrospective study of 374 patients that underwent liver transplantation at 15 freestanding children's hospitals from Ju...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12783
更新日期:2016-11-01 00:00:00
abstract::Thrombosis after kidney transplantation may result in catastrophic outcomes, including graft loss. Thrombophilia has been implicated in post-transplant thrombosis; data, however, are inconclusive on the impact of acquired and inherited thrombophilia and resultant thrombosis in renal graft recipients. We aimed to evalu...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13314
更新日期:2019-02-01 00:00:00
abstract::Success after solid organ transplantation is dependent on the proper balance of immunosuppression to prevent rejection of the allograft while limiting the risk of developing infections and malignancy. We present a 9-year-old girl, remote from transplant, who presented with airway plaque after a change in immunosuppres...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13046
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:The objective of the study was to analyze the profile of infections in children with BMF following alloHCT. METHODS:Data of 169 consecutive children with inherited and acquired BMF treated with alloHCT between 2012 and 2017 in Polish pediatric transplant departments were analyzed in registry-based retrospec...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13592
更新日期:2019-12-01 00:00:00
abstract::An 18-yr-old Hispanic female with end-stage renal disease secondary to chronic glomerulonephritis of unknown etiology underwent cadaveric renal transplantation. She was placed on a steroid-free protocol with tacrolimus and mycophenolate mofetil (MMF) for maintenance immunosuppression. Approximately 8 months post-trans...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2005.00245.x
更新日期:2005-02-01 00:00:00
abstract::The literature regarding the etiology and incidence of short and long-term renal functional impairment in pediatric liver allograft recipients was reviewed. Most of the reports include recipients receiving cyclosporine as the primary immunosuppressant. Using calculated glomerular filtration rate (cGFR), creatinine cle...
journal_title:Pediatric transplantation
pub_type: 杂志文章,评审
doi:10.1111/j.1399-3046.2005.00381.x
更新日期:2005-10-01 00:00:00
abstract::Bilateral nephrectomy prior to transplantation is indicated in some patients with end-stage renal disease. The indications for bilateral nephrectomy include persistent heavy proteinuria, refractory hypertension, and urinary tract infections. We report an eight-month-old baby with male pseudohermaphroditism and renal f...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2006.00624.x
更新日期:2007-03-01 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:AIMS:We investigated interrelations between cognitive abilities, behavioural problems, quality of life and disease-related variables of children after LTX. METHODS:Our sample consisted of 25 children. They were 8.5/2.8 (M/SD) years old and had received the transplant 5.5/3.1 years previously. For assessment we used we...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2009.01257.x
更新日期:2010-06-01 00:00:00
abstract::A proportion of patients with CF develop cirrhosis and portal hypertension. LT and combined LLT are rarely performed in patients with CF. To determine the outcome of LT and LLT in patients with CF. Patients with CF who had LT or LLT between 10/1987 and 5/2008 were identified from UNOS database. A total of 182 children...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2010.01460.x
更新日期:2011-05-01 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::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::Chronic rejection is the leading cause of graft loss following pediatric kidney transplantation. Our group and others have demonstrated an association between the development of Abs to self-antigens and chronic rejection following adult lung and heart transplantation. The goal of this study was to determine whether Ab...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12531
更新日期:2015-08-01 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::We reviewed 26 consecutive patients with AML who were transplanted in second CR2 between 1994 and 2005. The most common conditioning regimen was CY and TBI. Median age at transplant was 8.9 yr (range 2.2-18.2). Nine patients received related donor, 16 patients received unrelated donors, and one patient received unrela...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2008.01101.x
更新日期:2009-12-01 00:00:00
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 reporte...
journal_title:Pediatric transplantation
pub_type:
doi:10.1111/petr.13971
更新日期:2021-01-20 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::Severe portopulmonary hypertension (POPH) is a contraindication for liver transplantation (LT) because of the high risk of postoperative heart failure. The early detection of POPH is important for patients with biliary atresia (BA). Brain natriuretic peptide (BNP) is known to be correlated with liver fibrosis in patie...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13203
更新日期:2018-08-01 00:00:00
abstract::Depression is common in pediatric chronic kidney disease (CKD) patients. Depression is associated with inferior long-term outcomes. There is a paucity of studies that evaluate depression and possible associated factors in children and adolescents requiring renal replacement therapy (RRT). Cross-sectional study using C...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13591
更新日期:2019-12-01 00:00:00
abstract::We report a 10-yr-old boy who developed CIPS after a second allogeneic BMT for severe aplastic anemia. He received the second BMT from the same HLA-matched sibling donor 16 months after the first BMT due to secondary graft failure. The preparative regimen for the second BMT consisted of fludarabine, cyclophosphamide, ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2008.01009.x
更新日期:2009-08-01 00:00:00
abstract::Recipient lymphocytes are crucial for direct and indirect pathways of allorecognition. We proposed that the administration of alemtuzumab several weeks pretransplantation could eradicate peripheral lymphatic cells and promote donor-specific acceptance. This was a single-center, retrospective review of 101 consecutive ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12941
更新日期:2017-08-01 00:00:00
abstract::Sirolimus represents a major advancement in the field of solid organ transplantation and is being used as a rescue agent for acute and chronic rejection as well as for primary immunosuppression with good graft outcome. Although initial studies with sirolimus were in adults, now significant data have accumulated on the...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2005.00305.x
更新日期:2005-06-01 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::PBSCs have become the preferred source of autologous stem cells for supporting high-dose chemotherapy in childhood solid tumors. The aims of this retrospective study were to examine the optimal timing for administration of G-CSF after chemotherapy and to identify the patients from whom an optimal dose of PBSCs can be ...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.12137
更新日期:2013-11-01 00:00:00
abstract::There is a shortage of pediatric donor hearts for waitlisted children, and yet nearly 50% of organs offered are not transplanted. Donor quality is often cited as a reason for declining organs offered from donors infected with influenza, presumably due to concern about disease transmission at transplant leading to seve...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/petr.13585
更新日期:2019-12-01 00:00:00
abstract::This 18-month prospective investigation sought to examine changes in HRQOL over time for adolescent solid organ transplant recipients. Additionally, this study examined the relationship between adolescent and parent report of HRQOL and compared parent report of HRQOL to published normative data. Forty-eight adolescent...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1111/j.1399-3046.2010.01392.x
更新日期:2010-12-01 00:00:00
abstract::Graft-vs-host disease (GVHD) is one of the most difficult problems in stem cell transplantation. It is best considered in the context of the normal immune response. The role of the immune system is to identify and eliminate foreign antigens. In the case of GVHD, the antigens are minor histocompatibility antigens (mHA)...
journal_title:Pediatric transplantation
pub_type: 杂志文章,评审
doi:10.1111/j.1399-3046.2005.00441.x
更新日期:2005-12-01 00:00:00
abstract::We report on survival, rejection, lymphoma and renal function following cardiac transplant using a steroid-free maintenance immunosuppressive regimen. We have performed 73 cardiac transplants in 71 children under 16 yr of age in the last 12 yr. There were eight perioperative and four late deaths giving actuarial survi...
journal_title:Pediatric transplantation
pub_type: 杂志文章
doi:10.1034/j.1399-3046.2003.00014.x
更新日期:2003-02-01 00:00:00