Denys-Drash Syndrome
Conditions
Keywords
Denys-Drash syndrome, Post-transplant lymphoproliferative disorder, Kidney transplantation
Brief summary
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.
Detailed description
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.
Interventions
Collection of data from the patient's medical file. The data will be collected until 2024.
Sponsors
Assistance Publique - Hôpitaux de Paris
URC-CIC Paris Descartes Necker Cochin
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Occurrence of lymphoproliferative disorder | Up to 24 years | Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation | Up to 24 years | Investigate risk factors for post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys Drash syndrome. Description of the following factors: increase or secondary positivity of Epstein-Barr virus PCR, donor and recipient Epstein-Barr virus serology before transplantation, patient age at the time of transplantation. |
| Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation | Up to 24 years | Time to onset of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients without this syndrome. |
Countries
France
Contacts
CONTACTMathilde M.D. Grapin
CONTACTHélène Morel
PRINCIPAL_INVESTIGATORMathilde M.D. Grapin
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed