Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC, USA.
Department of Immunology, Duke University Medical Center, Durham, NC, USA.
J Clin Immunol. 2021 Jul;41(5):896-905. doi: 10.1007/s10875-021-01044-0. Epub 2021 May 18.
Children with complete DiGeorge anomaly (cDGA) have congenital athymia plus a myriad of other challenging clinical conditions. The term cDGA encompasses children with congenital athymia secondary to 22q11.2DS, CHARGE syndrome (coloboma, heart defects, choanal atresia, growth or mental retardation, genital abnormalities, and ear abnormalities and/or deafness), and other genetic abnormalities. Some children have no known genetic defects. Since 1993, more than 100 children with congenital athymia have been treated with cultured thymus tissue implantation (CTTI). Naïve T cells develop approximately 6 to 12 months after CTTI. Most of the children had significant comorbidities such as heart disease, hypoparathyroidism, and infections requiring complex clinical care post cultured thymus tissue implantation (CTTI).
The purpose of this guidance is to assist multidisciplinary teams in caring for children with cDGA both before and after CTTI.
Thirty-one specialists, in addition to the authors, were asked to share their experience in caring for children with cDGA at Duke University Health System, before and after CTTI. These specialists included physicians, nurses, dentists, therapists, and dieticians.
The goal of a multidisciplinary approach is to have children in the best possible condition for receiving CTTI and provide optimal care post CTTI through development of naïve T cells and beyond. The CTT (cultured thymus tissue) must be protected from high doses of steroids which can damage CTT. Organs must be protected from adverse effects of immunosuppression.
Creating a multidisciplinary team and a detailed plan of care for children with cDGA is important for optimal outcomes.
患有完全 DiGeorge 异常（cDGA）的儿童存在先天性无胸腺，同时还伴有多种其他具有挑战性的临床情况。术语 cDGA 涵盖了因 22q11.2DS、CHARGE 综合征（眼裂畸形、心脏缺陷、后鼻孔闭锁、生长或智力发育迟缓、生殖器异常和/或耳聋）和其他遗传异常导致先天性无胸腺的儿童。一些儿童没有已知的遗传缺陷。自 1993 年以来，已有 100 多名患有先天性无胸腺的儿童接受了培养的胸腺组织植入（CTTI）治疗。在 CTTI 后大约 6 到 12 个月会产生初始 T 细胞。大多数儿童患有严重的合并症，如心脏病、甲状旁腺功能减退症和感染，这些疾病在接受培养的胸腺组织植入（CTTI）后需要进行复杂的临床护理。
本指南旨在协助多学科团队在 CTTI 前后照顾患有 cDGA 的儿童。
除了作者之外，还邀请了 31 名专家分享他们在杜克大学健康系统照顾患有 cDGA 的儿童的经验，包括医生、护士、牙医、治疗师和营养师。
多学科方法的目标是使儿童在接受 CTTI 的最佳状态，并通过幼稚 T 细胞的发展和超越提供最佳的 CTTI 后护理。CTT（培养的胸腺组织）必须免受高剂量类固醇的损害，因为类固醇可能会损害 CTT。器官必须免受免疫抑制的不良影响。
为患有 cDGA 的儿童创建多学科团队和详细的护理计划对于获得最佳结果非常重要。
