Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder

Denys-Drash syndrome is a rare genetic disorder of childhood characterized by nephrotic syndrome, nephroblastomas, and genital developmental abnormalities. These children present with rapidly progressive renal failure, leading to kidney transplantation at a median age of 3.6 years. In a study of the French cohort of patients with Denys-Drash syndrome, a high risk of lymphoproliferative syndrome was observed (20%). This frequency is significantly higher than in the general transplant population (4%).

The aim of the study is to evaluate the risk of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients with kidney transplant patients without Denys-Drash syndrome.

The study hypothesizes that there is an increased risk of lymphoproliferative disorder in children with Denys-Drash syndrome. If this hypothesis is confirmed, it would allow for the development of active treatment methods to combat post-transplant lymphoproliferative disorder in this population.

Inclusion criteria

• Patient must be a minor at the time of kidney transplantation
• Diagnosis of Denys-Drash syndrome (WT1 pathogenic variants in exons 8 or 9) for cases
• Controls: minor patient, kidney transplanted at the same center as the case, immediately before and immediately after the case
• Kidney transplant recipient on immunosuppressants
• Hospital follow-up in a participating center in France
• Regardless of their Epstein-Barr virus status before transplantation
• Between 2000 and 2022
• Holders of parental authority or adult patients informed of the study and not objecting to the processing of medical data for the study

Exclusion criteria

• History of lymphoproliferative disorder prior to transplantation
• Other hematopoietic cancer
• Other genetic disease with a proven increased risk of lymphoproliferative disorder