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The role of pediatric living donor liver transplantation for inherited metabolic disorders. 小儿活体肝移植对遗传性代谢紊乱的作用。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-24 DOI: 10.1111/petr.14764
S. Sakamoto, M. Kasahara, George Mazariegos
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引用次数: 0
Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report. 一名伊朗碳酸酐酶 II 缺乏症骨质软化症患者的异基因造血干细胞移植:病例报告。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-24 DOI: 10.1111/petr.14689
B. Shamsian, Nader Momtazmanesh, Hedyeh Saneifard, Seyed Mohammad Taghi Hosseini Tabatabaei, Mohammadreza Jafari, Zahra Khafaf Pour, Kawthar Jasim Mohammad Rida Al-Hussieni, M. Jamee, Sharareh Kamfar
BACKGROUNDOsteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis).CASE PRESENTATIONHerein, we describe a 2.5-year-old male patient born to consanguineous parents who presented at 8-month-old with hydrocephaly, brain shunt, and developmental delay. Later at 9 months old, he was found to have eye disorder such as nystagmus, fracture of the elbow, abnormal skeletal survey, normal cell blood count (CBC), and severe hypocellularity in the bone marrow. Further evaluation showed renal tubular acidosis type 2. Whole-exome sequencing revealed a pathogenic homozygous variant in intron 2 of the carbonic anhydrase 2 gene (CA2) gene (c.232 + 1 G>T). The diagnosis of intermediate autosomal recessive osteopetrosis was established, and allogenic HSCT from his mother, a full-matched related donor (MRD), was planned. The conditioning regimen included Busulfan, Fludarabine, and Rabbit anti-thymocyte globulin. Cyclosporine and Mycophenolate Mofetil were used for graft-versus-host-disease prophylaxis. He Engrafted on day +13, and 95% chimerism was achieved. He is currently doing well without immunosuppressive therapy, now 12 months post HSCT, with normal calcium level and improving visual quality and FISH analysis revealed complete donor chimerism.DISCUSSIONHSCT could be a promising curative treatment for intermediate osteopetrosis and can provide long-term survival. Ongoing challenges in various aspects of HSCT remain to be addressed.
背景骨细胞病是一组因破骨细胞功能受损和骨吸收而导致的遗传性异质性疾病。特定基因突变的鉴定可对预后和治疗产生重要影响。在此,我们介绍了一名由碳酸酐酶 II 缺乏症(中度骨质疏松症)引起的骨质疏松症患者的诊断和造血干细胞移植(HSCT)的成功应用。后来在 9 个月大时,他被发现患有眼球震颤等眼部疾病、肘部骨折、骨骼测量异常、细胞血细胞计数(CBC)正常和骨髓细胞严重不足。进一步的评估显示,患者患有肾小管酸中毒 2 型。全外显子组测序显示,碳酸酐酶 2 基因(CA2)内含子 2 存在致病性同源变异(c.232 + 1 G>T)。他被确诊为中度常染色体隐性骨化症,并计划从他的母亲--一位完全匹配的亲属供体(MRD)--进行异基因造血干细胞移植。治疗方案包括布舒凡(Busulfan)、氟达拉滨(Fludarabine)和兔抗胸腺细胞球蛋白(Rabbit anti-thymocyte globulin)。环孢素和霉酚酸酯用于预防移植物抗宿主病。他在第 +13 天进行了移植,达到了 95% 的嵌合率。造血干细胞移植后 12 个月,他的血钙水平正常,视力质量改善,FISH 分析显示供体嵌合完全。造血干细胞移植的各方面挑战仍有待解决。
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引用次数: 0
Autologous peripheral blood stem cell mobilization and apheresis in pediatric patients with cancer: A single-center report of 64 procedures. 儿科癌症患者的自体外周血干细胞动员和分离:64例手术的单中心报告。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-24 DOI: 10.1111/petr.14751
Arzu Yazal Erdem, Derya Özyörük, İ. Ok Bozkaya, Selma Çakmakçı, S. Emir, H. Demir, H. Özgüner, İnci Ergürhan İlhan, Namık Yaşar Özbek
BACKGROUNDThe published experience concerning autologous peripheral blood stem cell collection in children is very limited.METHODSThe data of pediatric patients who underwent autologous stem cell mobilization and apheresis between January 2011 and April 2020 were analyzed retrospectively.RESULTSWe studied retrospectively 64 mobilization and apheresis procedures in 48 pediatric patients (34 males, 14 females), mean age of 7.31 ± 5.38 (range, 1.5-19.7) years, the underlying disease was mostly neuroblastoma (NBL). The body weight of 21 patients (43.75%) was 15 kg or less. The targeted autologous peripheral stem cell apheresis (APSCA) was successfully achieved in 98% of patients. Neuroblastoma patients were younger than the rest of the patients and underwent apheresis after receiving fewer chemotherapy cycles than others and all of them mobilized within the first session successfully. Plerixafor was added to mobilization in nine heavily pretreated patients (18.7%), median two doses (range, 1-4 doses). 11 patients (22.9%) underwent radiotherapy (RT) before mobilization with doses of median 24 Gy (range, 10.8-54.0 Gy). Patients with RT were older at the time of apheresis and had received more chemotherapy courses than patients without RT. As a result, patients with a history of RT had significantly lower peripheral CD34+ cells and CD34+ yields than those without RT. In 17 patients (35.4%), 22 different complications were noted. The most common complications were catheter-related infections (n:10, 20.8%), followed by catheter-related thrombosis in eight patients (16.7%).CONCLUSIONSPatients who had far less therapy before apheresis were more likely to mobilize successfully. Our study provides a detailed practice approach including complications during APSCA aiming to increase the success rates of apheresis in transplantation centers.
结果我们回顾性研究了48名儿科患者(34名男性,14名女性)的64次干细胞动员和分离手术,平均年龄为(7.31±5.38)岁(范围为1.5-19.7),基础疾病多为神经母细胞瘤(NBL)。21名患者(43.75%)的体重在15公斤或以下。98%的患者成功进行了有针对性的自体外周干细胞分离术(APSCA)。神经母细胞瘤患者比其他患者更年轻,接受化疗周期比其他患者更短,而且所有患者都在第一次治疗中成功动员。9名重度预处理患者(18.7%)在动员过程中添加了普乐沙福,中位数为2剂(范围为1-4剂)。11名患者(22.9%)在动员前接受了放射治疗(RT),剂量中位数为24 Gy(范围为10.8-54.0 Gy)。与未接受过放疗的患者相比,接受过放疗的患者在进行动员时年龄更大,接受过的化疗疗程更多。因此,有 RT 史的患者外周 CD34+ 细胞和 CD34+ 产率明显低于无 RT 史的患者。17名患者(35.4%)出现了22种不同的并发症。最常见的并发症是导管相关感染(10 例,20.8%),其次是导管相关血栓形成(8 例,16.7%)。我们的研究提供了一个详细的实践方法,包括 APSCA 期间的并发症,旨在提高移植中心无细胞抽吸术的成功率。
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引用次数: 0
COVID-19 disease in children and adolescents following allogeneic hematopoietic stem cell transplantation: A report from the Turkish pediatric bone marrow transplantation study group. 异体造血干细胞移植后儿童和青少年的 COVID-19 疾病:土耳其小儿骨髓移植研究小组的报告。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-24 DOI: 10.1111/petr.14758
C. Bozkurt, V. Hazar, B. Malbora, A. Küpesiz, Utku Aygüneş, T. Fışgın, M. Karakükçü, B. Kuşkonmaz, S. Kılıc, D. Bayirli, Özlem Arman Bilir, K. Yalçın, Salih Gözmen, V. Uygun, M. Elli, H. Sarbay, F. Küpesiz, H. I. Sasmaz, B. Aksoy, Ebru Yılmaz, F. Okur, F. Tekkesin, Fatma Demir Yenigürbüz, Gülcihan Özek, A. Atay, İ. Bozkaya, S. Çelen, Seda Öztürkmen, A. M. Güneş, O. Gürsel, Elif Güler, Alper Özcan, D. Çetinkaya, S. Aydoğdu, Namık Yaşar Özbek, G. Karasu, G. Sezgin, Ömer Doğru, Davut Albayrak, G. Öztürk, S. Aksoylar, Hayriye Daloğlu, Işık Odaman Al, M. Evim, S. Akbayram, Yurday Öncül, E. Zengin, C. Albayrak, Ç. Timur, Y. D. Kar, H. Çakmaklı, Ö. Tüfekçi, Ersin Töret, Bulent Antmen
BACKGROUNDData on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited.OBJECTIVESThe study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection.METHODIn this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022.RESULTSThe median time from HSCT to COVID-19 infection was 209.0 days (IQR, 111.7-340.8; range, 0-3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID-19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p: .001) and lymphopenia at diagnosis (OR, 5.21, p: .006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p: .028), multisystem inflammatory syndrome in children (MIS-C) (OR, 31.07, p: .003), and LRTD (OR, 10.11, p: .035) were associated with a higher risk for COVID-19-related mortality.CONCLUSIONWhile COVID-19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS-C or LRTD.
背景关于造血干细胞移植(HSCT)后感染SARS-CoV-2(COVID-19)的儿科患者的风险因素和结局的数据非常有限。目的该研究旨在分析在感染COVID-19之前接受异基因造血干细胞移植的大型儿科队列中的临床症状、风险因素以及入住ICU和死亡的结局。结果从造血干细胞移植到感染COVID-19的中位时间为209.0天(IQR,111.7-340.8;范围,0-3845天)。最常见的临床表现是发热(58.7%)。大多数患者(78.8%)无症状/病情较轻,9.2%的患者病情为中度,4.4%的患者病情为重度,7.6%的患者病情为危重。总死亡率为 10.9%(20 人)。9名患者(4.9%)的死亡归因于COVID-19。多变量分析显示,下呼吸道疾病(LRTD)(OR,23.20,p:.001)和诊断时淋巴细胞减少症(OR,5.21,p:.006)是入住重症监护室的风险因素,而来自不匹配供体的造血干细胞移植(OR,54.04,p:.028)、儿童多系统炎症综合征(MIS-C)(OR,31.07,p:.003)和 LRTD(OR,10.11,p:.035)与更高的重症监护率相关。结论虽然 COVID-19 在儿科移植受者中大多无症状或症状轻微,但在诊断时患有 LRTD 或淋巴细胞减少症的受者可能会因 COVID-19 而被送入 ICU,而且在不匹配供体移植受者和出现 MIS-C 或 LRTD 的受者中,COVID-19 可能更致命。
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引用次数: 0
Gastric sleeve as an extra-anatomical roux for biliary reconstruction in a pediatric third liver transplant. 在小儿第三次肝移植手术中,将胃袖状切除术作为胆道重建的解剖外路由器。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-24 DOI: 10.1111/petr.14769
Abdul Rahman Hakeem, Harrison Gee, Magdy Attia, K. Raj Prasad
BACKGROUNDSir Roy Calne in 1976 described "Biliary reconstruction is the Achilles heel of liver transplantation," and it remains true. In some patients, such as those with short-gut syndrome and concomitant biliary atresia, neither duct to duct nor Roux biliary reconstruction is feasible.METHODSWe present a case of child's third liver transplant (LT), where an innovative extra-anatomical biliary bypass was created using a sleeve from greater curvature of the stomach.RESULTSThe patient is well nearly 10 years following the LT.CONCLUSIONSThis technique could prove to be an important addition to the armamentarium of a surgeon in difficult retransplants and in patients with short-gut syndrome as it provides a viable option with good long-term outcome.
背景罗伊-卡尔内爵士(Sir Roy Calne)在 1976 年描述道:"胆道重建是肝移植的致命弱点。方法我们介绍了一例儿童第三次肝移植(LT)的病例,该病例使用胃大弯套管创新性地建立了解剖外胆道旁路。结果患者在肝移植术后近 10 年恢复良好。结论这项技术可以证明是外科医生在进行困难的再移植和短肠综合征患者手术时的重要辅助手段,因为它提供了一种长期效果良好的可行方案。
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引用次数: 0
Recurrent disease after pediatric renal transplantation. 小儿肾移植后疾病复发。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-23 DOI: 10.1111/petr.14676
Anjali Nayak, R. Ettenger, Katherine Wesseling-Perry
BACKGROUNDRecurrent disease after kidney transplant remains an important cause of allograft failure, accounting for 7-8% of graft loss and ranking as the fifth most common cause of allograft loss in the pediatric population. Although the pathophysiology of many recurrent diseases is incompletely understood, recent advances in basic science and therapeutics are improving outcomes and changing the course of several of these conditions.METHODSReview of the literature.RESULTSWe discuss the diagnosis and management of recurrent disease.CONCLUSIONWe highlight new insights into the pathophysiology and treatment of post-transplant primary hyperoxaluria, focal segmental glomerulosclerosis, immune complex glomerulonephritis, C3 glomerulopathy, lupus nephritis, atypical hemolytic uremic syndrome, and IgA nephropathy.
背景肾移植后的复发性疾病仍是导致异体移植失败的重要原因,占移植物损失的 7-8%,是儿科人群中导致异体移植失败的第五大常见原因。虽然人们对许多复发性疾病的病理生理学尚不完全了解,但基础科学和治疗学的最新进展正在改善这些疾病的治疗效果并改变其病程。结论我们强调了对移植后原发性高草酸尿症、局灶节段性肾小球硬化症、免疫复合物肾小球肾炎、C3肾小球病、狼疮肾炎、非典型溶血性尿毒症综合征和IgA肾病的病理生理学和治疗的新见解。
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引用次数: 0
Clinical conundrums in pediatric kidney transplantation: What we know about the role of angiotensin II type I receptor antibodies in pediatric kidney transplantation and the path forward. 小儿肾移植的临床难题:我们对血管紧张素 II I 型受体抗体在小儿肾移植中的作用的认识和未来之路。
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-23 DOI: 10.1111/petr.14762
Meghan H Pearl
Antibodies to angiotensin II type 1 receptor (AT1R-Abs) are among the most well-studied non-HLA antibodies in renal transplantation. These antibodies have been shown to be common in pediatric kidney transplantation and associated with antibody-mediated rejection (AMR), vascular inflammation, development of human leukocyte donor-specific antibodies (HLA DSA), and allograft loss. As AT1R-Ab testing becomes more readily accessible, evidence to guide clinical practice for testing and treating AT1R-Ab positivity in pediatric kidney transplant recipients remains limited. This review discusses the clinical complexities of evaluating AT1R-Abs given the current available evidence.
血管紧张素 II 1 型受体抗体(AT1R-Abs)是肾移植中研究最深入的非 HLA 抗体之一。这些抗体已被证明在小儿肾移植中很常见,并与抗体介导的排斥反应(AMR)、血管炎症、人类白细胞供体特异性抗体(HLA DSA)的产生和异体移植物丢失有关。随着AT1R-Ab检测越来越容易获得,指导临床实践检测和治疗小儿肾移植受者AT1R-Ab阳性的证据仍然有限。本综述讨论了根据现有证据评估 AT1R-Ab 的临床复杂性。
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引用次数: 0
Long‐term outcome of pediatric renal transplantation with donors younger than 6 years 小于 6 岁供体的儿科肾移植的长期结果
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-17 DOI: 10.1111/petr.14761
Carla Ramirez‐Amoros, Maria San Basilio, Virginia Amesty, Susana Rivas, Roberto Lobato, Carlota Fernandez‐Camblor, Pedro Lopez‐Pereira, Maria Jose Martinez‐Urrutia
BackgroundRenal transplantation is currently the best treatment option for patients with end‐stage renal disease. However, the use of kidneys from donors under 6 years of age as a possibility to increase the organ pool in pediatric recipients remains a controversial matter. We aimed to investigate whether donor age is associated to the long‐term functionality of the renal graft. Likewise, we analyzed the adaptation of the graft to the ascending functional requirements in the pediatric patient.MethodsRetrospective study of the results obtained in pediatric recipients transplanted with grafts from donors between 3 and 6 years of age, comparing them with those of grafts from donors older than 6 years. Among the variables compared are cumulative graft survival, renal size, need for antiproteinuric therapy, GFR, incidence of rejection, pyelonephritis, renal failure and surgical or tumor complications.ResultsA total of 43 transplants were performed with donors aged 3–6 years, and 42 transplants with donors older than 6 years. Cumulative graft survival at 5 years was 81% for the younger donor group compared to 98% for the older donor group (p < .05). At 8 years, cumulative graft survival for donors <6 years was 74%. As for the mean estimated graft survival, it was 11.52 years for the younger donor group and 14.51 years for older donors. During follow‐up, the younger donor group presented greater renal enlargement and need for antiproteinuric therapy. The older donors group had a higher GFR during the first year of follow‐up, which then equalized in both groups. There were no statistically significant differences in the incidence of acute or chronic rejection, acute pyelonephritis, acute renal failure or surgical or tumor complications.ConclusionsRenal transplants of grafts equal to or less than 6 years old have good short‐term and acceptable long‐term results in pediatric patients.
背景肾移植是目前治疗终末期肾病患者的最佳方法。然而,使用 6 岁以下捐献者的肾脏作为增加儿科受者器官库的一种可能性仍存在争议。我们的目的是研究供体年龄是否与肾脏移植的长期功能有关。方法对接受 3-6 岁供体移植的儿科受者的结果进行回顾性研究,并与接受 6 岁以上供体移植的结果进行比较。比较的变量包括累计移植物存活率、肾脏大小、抗蛋白尿治疗需求、肾小球滤过率、排斥反应发生率、肾盂肾炎、肾功能衰竭以及手术或肿瘤并发症。年龄较小的供体组 5 年的累积移植物存活率为 81%,而年龄较大的供体组为 98%(p <.05)。8 年时,6 岁捐献者的累计移植物存活率为 74%。至于平均估计移植物存活时间,年轻供体组为 11.52 年,年长供体组为 14.51 年。在随访期间,年轻供体组的肾脏肿大程度更高,需要进行抗蛋白尿治疗。老年捐献者组在随访的第一年中肾小球滤过率较高,随后两组的肾小球滤过率趋于一致。急性或慢性排斥反应、急性肾盂肾炎、急性肾功能衰竭、手术或肿瘤并发症的发生率在统计学上没有明显差异。
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引用次数: 0
Partial heart transplantation: A procedure still finding its place 部分心脏移植:仍在寻找定位的手术
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-16 DOI: 10.1111/petr.14745
Seth A. Hollander
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引用次数: 0
Successful use of eculizumab in immediate ANCA vasculitis recurrence in a pediatric kidney transplant 成功使用依库珠单抗治疗小儿肾移植术后即刻复发的 ANCA 血管炎
IF 1.3 4区 医学 Q2 Medicine Pub Date : 2024-04-16 DOI: 10.1111/petr.14760
Caitlin G. Peterson, Rachel L. Jackson
Kidney transplantation is an acceptable therapy end-stage kidney disease secondary to antineutrophil cytoplasmic antibody-associated vasculitis with risk of disease recurrence ranging from 3% to 17%. Standard posttransplant immunosuppression is the mainstay of therapy after recurrence. Recently, new medications focused on complement regulation and avoidance of steroids have been shown to be effective in treating antineutrophil cytoplasmic antibody (ANCA) vasculitis with no studies in the pediatric population.
肾移植是一种可接受的治疗抗中性粒细胞胞浆抗体相关性血管炎继发性终末期肾病的方法,但疾病复发的风险在 3% 到 17% 之间。标准的移植后免疫抑制是复发后的主要治疗方法。最近,以补体调节和避免使用类固醇为主的新药已被证明能有效治疗抗中性粒细胞胞浆抗体(ANCA)血管炎,但目前还没有针对儿童的研究。
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引用次数: 0
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Pediatric Transplantation
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