Kidney Week

Abstract: FR-PO305

Transplant Outcomes in Patients with Autosomal Dominant Tubulointerstitial Kidney Disease (AD-TKD)

Session Information

• Cystic Kidney Diseases - II
  November 03, 2017 | Location: Hall H, Morial Convention Center
  Abstract Time: 10:00 AM - 10:00 AM

Category: Genetic Diseases of the Kidney

• 801 Cystic Kidney Diseases

Authors

• Cormican, Sarah, Beaumont Hospital, Dublin 9, Ireland

Sarah Cormican,

• Connaughton, Dervla M., Boston Children's Hospital, Boston, Massachusetts, United States

Dervla M. Connaughton,

• Kennedy, Claire, Beaumont Hospital, Dublin 9, Ireland

Claire Kennedy,

• Benson, Katherine A., Queen's University, Belfast, Belfast, United Kingdom

Katherine A. Benson,

• Cavalleri, Gianpiero, RCSI, Dublin, Italy

Gianpiero Cavalleri,

• Doyle, Brendan, Beaumont Hospital, Dublin 9, Ireland

Brendan Doyle,

• Dorman, Anthony M., Beaumont Hospital, Dublin 9, Ireland

Anthony M. Dorman,

• Little, Mark Alan, Trinity College Dublin, Dublin, Ireland

Mark Alan Little,

• Lavin, Peter J., Trinity College Dublin, Dublin, Ireland

Peter J. Lavin,

• Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States

Kendrah O. Kidd,

• Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States

Anthony J. Bleyer,

• Conlon, Peter J., Beaumont Hospital, Dublin 9, Co Dublin, Ireland

Peter J. Conlon,

Background

ADTKD is a rare genetic cause of chronic kidney disease which causes progressive tubular atrophy and interstitial fibrosis with loss of renal function. Patients with ADTKD frequently progress to end stage renal disease (ESRD). Little is known about transplant outcomes in this group.

Methods

Patients with clinical characteristics consistent with ADTKD by the criteria outlined in the 2015 KDIGO consensus report were identified through the Irish Kidney Gene Project. Clinical and histology records were reviewed for patients who received a renal transplant during follow-up. We compared ADTKD transplant outcomes with those of 4004 non-ADTKD transplant recipients.

Results

29 patients were identified; fifteen of whom had a known mutation (ADTKD-MUC1 n=9, ADTKD-UMOD n=6). Fourteen patients met KDIGO criteria for diagnosis based on histology and family history without an identified mutation (ADTKD-NOS). Four patients received a second transplant during follow-up. In total 33 grafts (28 deceased donor, 5 living related donor) were included.

1-year, 5-year and 10-year graft survival for patients with ADTKD vs. non-ADTKD patients were: 100% vs. 90%, 96% vs. 77% and 72% vs. 60%. On log-rank test for equality of survival functions these differences were not statistically significant.

Fifteen patients had at least one transplant biopsy performed during follow-up (26 transplant biopsies were performed in total). The most common findings were chronic allograft nephropathy (n=11) and acute rejection (n=10). Cyclosporin toxicity (n=2), polyoma virus nephropathy (n=1), acute tubular necrosis (n=1) and donor-related fibrosis (n=1) were also seen. Features sugestive of recurrent disease were not described

Fourteen grafts were lost during follow-up due to patient death (n=7), chronic allograft nephropathy (n=6) and polyoma-virus nephropathy combined with acute rejection (n=1).

Conclusion

In patients with ESRD due to ADTKD we demonstrate that transplant outcomes are comparable with the general transplant population. Increasing our ability to identify the responsible genetic mutation in each patient will allow screening of relatives who wish to donate but are potentially affected.