Shin Sohyun, Suh Dong In, Ko Jung Min, Park June Dong, Lee Jeong-Moo, Yi Nam-Joon, Kim Young Tae, Park Samina, Lee Seunghyun, Koh Jaemoon, Choi Yu Hyeon
Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
Department of Surgery, Seoul National University Hospital, Seoul, Korea.
Pediatr Transplant. 2021 Mar;25(2):e13802. doi: 10.1111/petr.13802. Epub 2020 Aug 10.
DC is caused by defects at the level of telomere maintenance, and cells from patients with this disease have abnormally short telomeres and show premature senescence. One consequence of DC is bone marrow failure. Thus, patients with DC often require HSCT. However, HSCT does not ameliorate other DC-related manifestations. In fact, HSCT can accelerate organ dysfunction due to treatment-related complications, and solid organ transplantation is required in some patients with DC. In this report, we describe the clinical course of a 5-year-old boy who was transferred to our hospital because of progressive dyspnea, 2 years after HSCT. At admission, he had tachypnea and hypoxemia. A liver biopsy was performed for suspected HPS caused by PH, and LT was considered. Eventually, his hypoxemia worsened, and he was transferred to a PICU and started on VA ECMO. He subsequently underwent a CLLT. ECMO was stopped on post-operative day 12, extubation was achieved on post-operative day 29, and the patient recovered well from the surgery. Our results show that CLLT could be a life-saving treatment option for DC patients with very severe HPS in whom a poor outcome is expected after LT.
先天性角化不良（DC）是由端粒维持水平的缺陷引起的，患有这种疾病的患者的细胞端粒异常短，并表现出早衰。DC的一个后果是骨髓衰竭。因此，DC患者通常需要进行造血干细胞移植（HSCT）。然而，HSCT并不能改善其他与DC相关的表现。事实上，HSCT可能会因治疗相关并发症而加速器官功能障碍，一些DC患者需要进行实体器官移植。在本报告中，我们描述了一名5岁男孩的临床病程，他在HSCT后2年因进行性呼吸困难被转诊至我院。入院时，他有呼吸急促和低氧血症。因怀疑由肺高压（PH）导致肝肺综合征（HPS）而进行了肝脏活检，并考虑进行肝移植（LT）。最终，他的低氧血症恶化，被转入儿科重症监护病房（PICU）并开始接受体外膜肺氧合（VA ECMO）治疗。随后他接受了活体肝移植（CLLT）。术后第12天停止使用ECMO，术后第29天拔管，患者手术恢复良好。我们的结果表明，对于预期LT后预后不良的非常严重HPS的DC患者，CLLT可能是一种挽救生命的治疗选择。
