In light of the organ shortage, there is a great responsibility to assess postmortal organs for which procurement has been consented and to increase the life span of transplanted organs. The former responsibility has moved many centers to accept extended criteria organs. The latter responsibility requires an exact diagnosis and, if possible, omission of the harmful influence on the transplant. We report the course of a kidney transplant that showed a steady decline of function over a decade, displaying numerous cysts of different sizes. Clinical workup excluded the most frequent causes of chronic transplant failure. The filed allocation documents mentioned the donor's disease of oral-facial-digital syndrome, a rare ciliopathy, which can also affect the kidney. Molecular diagnosis was performed by culturing donor tubular cells from the recipient´s urine more than 10 years after transplantation. Next-generation panel sequencing with DNA from tubular urinary cells revealed a novel truncating mutation in OFD1, which sufficiently explains the features of the kidney transplants, also found in the second kidney allograft. Despite this severe donor disease, lifesaving transplantation with good long-term outcome was enabled for 5 recipients.

中文翻译：

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基于尿液的肾移植失败的分子诊断。

鉴于器官短缺，评估已同意获取的死后器官并延长移植器官的寿命具有重大责任。以前的责任促使许多中心接受扩展的标准机构。后一种责任需要准确的诊断，如果可能的话，需要排除对移植的有害影响。我们报告了肾移植的过程，显示功能在十年内稳步下降，显示出许多不同大小的囊肿。临床检查排除了慢性移植失败的最常见原因。提交的分配文件提到了供体的口-面-指综合症，这是一种罕见的纤毛病，也会影响肾脏。通过从移植后 10 多年的受体尿液中培养供体肾小管细胞进行分子诊断。对来自肾小管尿细胞的 DNA 进行的下一代 panel 测序揭示了 OFD1 中的一种新型截断突变，这充分解释了肾移植的特征，该突变也在第二个同种异体肾移植物中发现。尽管有这种严重的供体疾病，但仍为 5 名受者提供了具有良好长期结果的挽救生命的移植手术。