Case report: Liver Transplantation in a highly dependent Down Syndrome patient

Q4 Medicine Transplantation Reports Pub Date : 2020-09-01 DOI:10.1016/j.tpr.2020.100054

Marina Guitton Rodrigues , Paula Marcela Vilela Castro , Tiago Careli de Almeida , Bruno Carrijo Cunha , Fernanda Ribeiro Danziere , Francisco Antonio Sergi Filho , Beimar Edmundo Zeballos Sempertegui , Juan Rafel Branez , Leonardo Toledo Mota , Marcelo Perosa de Miranda , Regina Gomes dos Santos , e Tércio Genzini

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Abstract

Despite the malformations commonly associated with Down Syndrome, the average life expectancy of individuals nowadays may reach 60-70 years of age. With these increased survival rates, the spectrum of diseases reported in these patients has been growing, particularly autoimmune diseases. This report describes a 44-year-old patient with Down Syndrome with a high degree of family dependence and end-stage liver disease (MELD-Na 38) caused by overlapping Primary Sclerosing Cholangitis and Autoimmune Hepatitis, who needed Liver Transplantation. Here, we point out two relevant aspects: the overlap of rare autoimmune diseases in patients with Trisomy 21 and the performance of Liver Transplantation in these patients. We then highlight the ethical dilemma between organ scarcity and the use of the graft in patients with neurocognitive disorders.

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病例报告:肝移植在一个高度依赖唐氏综合征患者

尽管通常与唐氏综合症相关的畸形，现在个体的平均预期寿命可能达到60-70岁。随着生存率的提高，这些患者报告的疾病范围也在增加，尤其是自身免疫性疾病。本报告描述了一例44岁的唐氏综合征患者，由于原发性硬化性胆管炎和自身免疫性肝炎重叠引起的高度家庭依赖和终末期肝病(MELD-Na 38)，需要肝移植。在此，我们指出两个相关方面:21三体患者罕见自身免疫性疾病的重叠和这些患者肝移植的表现。然后，我们强调了器官稀缺和神经认知障碍患者使用移植物之间的伦理困境。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Transplantation Reports Medicine-Transplantation

CiteScore

0.60

自引率

0.00%

发文量

审稿时长

101 days

期刊介绍： To provide to national and regional audiences experiences unique to them or confirming of broader concepts originating in large controlled trials. All aspects of organ, tissue and cell transplantation clinically and experimentally. Transplantation Reports will provide in-depth representation of emerging preclinical, impactful and clinical experiences. -Original basic or clinical science articles that represent initial limited experiences as preliminary reports. -Clinical trials of therapies previously well documented in large trials but now tested in limited, special, ethnic or clinically unique patient populations. -Case studies that confirm prior reports but have occurred in patients displaying unique clinical characteristics such as ethnicities or rarely associated co-morbidities. Transplantation Reports offers these benefits: -Fast and fair peer review -Rapid, article-based publication -Unrivalled visibility and exposure for your research -Immediate, free and permanent access to your paper on Science Direct -Immediately citable using the article DOI