RESUMO
In organ transplantation, accurate analysis of clinical outcomes requires large, high-quality data sets. Not only are outcomes influenced by a multitude of factors such as donor, recipient, and transplant characteristics and posttransplant events but they may also change over time. Although large data sets already exist and are continually expanding in transplant registries and health institutions, these data are rarely combined for analysis because of a lack of harmonization. Promoted by the digitalization of the healthcare sector, effective data harmonization tools became available, with potential applications also for organ transplantation. We discuss herein the present problems in the harmonization of organ transplant data and offer solutions to enhance its accuracy through the use of emerging new tools. To overcome the problem of inadequate representation of transplantation-specific terms, ontologies and common data models particular to this field could be created and supported by a consortium of related stakeholders to ensure their broad acceptance. Adopting clear data-sharing policies can diminish administrative barriers that impede collaboration between organizations. Secure multiparty computation frameworks and the artificial intelligence (AI) approach federated learning can facilitate decentralized and harmonized analysis of data sets, without sharing sensitive data and compromising patient privacy. A common image data model built upon a standardized format would be beneficial to AI-based analysis of pathology images. Implementation of these promising new tools and measures, ideally with the involvement and support of transplant societies, is expected to produce improved integration and harmonization of transplant data and greater accuracy in clinical decision-making, enabling improved patient outcomes.
RESUMO
Denys-Drash syndrome (DDS), a condition caused by mutations in the tumor-suppressor gene WT-1, is associated with a triad of disorders: ambiguous genitalia, nephrotic syndrome leading to end-stage renal disease (ESRD), and Wilms' tumor. Given the variable disease course, management is challenging. We aimed to describe the evolution of DDS and the range of management strategies by summarizing the clinical courses of cases collected from a questionnaire sent to the international pediatric nephrology community. 15 respondents provided information on 23 patients; 21 DDS cases were confirmed and analyzed. At DDS diagnosis, 6 patients had a Wilms' tumor (group A) and 15 had no Wilms' tumor (group B). Three group A patients had unilateral nephrectomy. Two of these still had renal function, with no second tumor, at 36 months and 16 years of age, and 1 progressed to ESRD. Three had bilateral nephrectomy before ESRD. Eight group B patients progressed to ESRD, all of whom later had all renal tissue removed. Two group B patients subsequently developed a unilateral Wilms' tumor and had bilateral nephrectomy pre-ESRD. Three had bilateral nephrectomy prior to reaching ESRD without ever having a Wilms' tumor. Two group B patients remained tumor-free with renal function at last follow-up. Two main management approaches were taken: pre-emptive nephrectomy prior to ESRD and conservative surveillance. Based on the known risks associated with ESRD in infants and young children, the variable course of DDS, and the relatively good prognosis associated with Wilms' tumor, a guiding principle of preservation of renal function is most logical. Most would advocate bilateral prophylactic nephrectomy after ESRD is reached due to the high tumor risk, which is likely heightened after transplant.
