PDF(Pubmed)
Abstract：
Organ transplantation is the primary therapy for organ failure caused by telomere biology disorder (TBD). We describe the first documented case of simultaneous liver and kidney transplantation (SLKTx) for TBD, although the diagnosis of TBD was reached only three months following SLKTx. The patient was born prematurely, displayed growth retardation, and developed chronic kidney and liver diseases. His pre-SLKTx autoimmune, metabolic, and viral assessments were negative, and persistent pancytopenia (bone marrow cellularity 70-80%) was attributed to renal disease-associated bone marrow changes. Following SLKTx, he was discharged with stable graft function on tacrolimus and prednisolone. Although mycophenolate mofetil was discontinued on the second postoperative day, his pancytopenia persisted. Despite extensive evaluations, including drug, immune, nutritional, and viral assessments, all results were negative. A bone marrow biopsy conducted three months post-transplant revealed significant hypocellularity (40-50%). Whole genome sequencing revealed a likely pathogenic variant of the TINF2 gene. The patient was subsequently treated with danazol. At the nine-month follow-up post-SLKTx, he exhibited stable graft function and improved cell counts while maintaining triple-drug immunosuppression. Given the lack of uniform diagnostic criteria for TBD, healthcare providers must be vigilant with patients presenting with multi-organ failure and persistent cytopenias. Effective pre-transplant screening for TBD can lead to timely diagnoses, better management, and improved post-transplant outcomes.
摘要：
器官移植是端粒生物学障碍（TBD）引起的器官衰竭的主要治疗方法。我们描述了第一个有记录的同时进行肝和肾移植（SLKTx）的TBD病例，尽管SLKTx后3个月才诊断为TBD.病人早产,表现出生长迟缓，发展为慢性肾脏和肝脏疾病。他在SLKTx之前的自身免疫,新陈代谢，病毒评估是阴性的，持续性全血细胞减少症(骨髓细胞含量70-80%)归因于肾脏疾病相关的骨髓改变。在SLKTx之后，他在接受他克莫司和泼尼松龙治疗后，移植物功能稳定。尽管霉酚酸酯在术后第二天停药，他的全血细胞减少症持续存在。尽管进行了广泛的评估，包括毒品,免疫，营养,和病毒评估，所有结果均为阴性.移植后三个月进行的骨髓活检显示细胞明显不足（40-50％）。全基因组测序揭示了TINF2基因的可能致病变体。患者随后用达那唑治疗。在SLKTx后的9个月随访中，他表现出稳定的移植物功能和改善的细胞计数，同时维持三药免疫抑制。鉴于TBD缺乏统一的诊断标准，医疗保健提供者必须对出现多器官功能衰竭和持续性血细胞减少症的患者保持警惕.有效的移植前筛查TBD可以导致及时的诊断，更好的管理,和改善移植后的结果。
