Abstract: PO1650
Genotyping of Renal Transplant Patients
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - 2
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Murray, Susan Louise, Royal College of Surgeons in Ireland, Dublin, Ireland
- Benson, Katherine A., Royal College of Surgeons in Ireland, Dublin, Ireland
- Kennedy, Claire, Royal College of Surgeons in Ireland, Dublin, Ireland
- Cormican, Sarah, Beaumont Hospital, Dublin, Ireland
- Kidd, Kendrah O., Wake Forest University, Winston-Salem, North Carolina, United States
- Bleyer, Anthony J., Wake Forest University, Winston-Salem, North Carolina, United States
- Little, Mark Alan, University of Dublin Trinity College, Dublin, Ireland
- Cavalleri, Gianpiero, Royal College of Surgeons in Ireland, Dublin, Ireland
- Conlon, Peter J., Royal College of Surgeons in Ireland, Dublin, Ireland
Background
There is an increasing recognition that though individual inherited kidney diseases are rare, when considered as a single cohort inherited forms of kidney disease may account for up to 10% of CKD. This can have implications for potential living kidney donors who are often related to the recipient and at higher lifetime risk of kidney failure. We sequenced patients undergoing renal transplantation to assess what proportion of kidney failure was caused by monogenic kidney disease.
Methods
We identified adult patients undergoing living or deceased renal transplantation. We excluded those with pauci-immune vasculitis, systemic lupus erythematosus, drug-induced causes and those with renovascular kidney disease over the age of 50. Patients underwent targeted next generation sequencing using a custom panel of 127 genes known to cause renal disease. All suspected disease-causing variants were classified by American College of Medical Genetics guidelines and discussed by a multidisciplinary team[KB1] .
Results
We sequenced 99 patients who presented for renal transplantation. We were able to detect an ACMG-classified pathogenic/ likely pathogenic variant in 27 (26%) patients. The most common disease-causing variant identified was in PKD1, which was identified in 14 patients (14%), accounting for 52% of all individuals with a disease-causing gene identified. Four others (16%) had pathogenic variants in COL4A4 or COL4A5 genes. No other disease-causing variant was present in more than one individual.
Conclusion
It is possible to identify monogenic causes of kidney disease in a carefully selected population with ESRD, and this may be useful in stratifying risk in potential living renal donors.