Abstract: SA-PO596
Genetically Affected Individuals with UMOD and MUC1 Mutations Who Donate a Kidney Have Surprisingly Good Renal Outcomes
Session Information
- Noncystic Mendelian Diseases
November 04, 2017 | Location: Hall H, Morial Convention Center
Abstract Time: 10:00 AM - 10:00 AM
Category: Genetic Diseases of the Kidney
- 802 Non-Cystic Mendelian Diseases
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Kidd, Kendrah O., Wake Forest School of Medicine, Winston-Salem, North Carolina, United States
- Conlon, Peter J., Beaumont Hospital, Dublin 9, Co Dublin, Ireland
- Lavin, Peter J., Trinity Health Kidney Centre, Dublin, Ireland
- Kennedy, Claire, Beaumont Hospital, Dublin, Ireland
- Greka, Anna, Harvard Medical School, Boston, Massachusetts, United States
- Kmoch, Stanislav, Institute of Inherited Metabolic Disorders, Prague, Czechia
Background
Some individuals with UMOD and MUC1 mutations who were mildly affected donated kidneys prior to genotyping being available. The outcome of these individuals has not been studied.
Methods
We studied renal outcomes in 4 individuals with UMOD mutations and 3 individuals with MUC1 mutations.
Results
All donors donated to family members with the same mutation. One donor had a cerebral hemorrhage with donation immediately prior to death.The eGFR post-donation was lower than seen in health donors, with a mean egfr of 46.5± 5.3 ml/min. However, kidney function remained stable, and no donors required renal replacement therapy at a mean follow up of 10.2 5± 6.6 (range 3-18) years follow up. Likewise recipients have done well with all allografts functioning 12.9± 9.6 (range 3-18) years post-transplant.
Conclusion
Some individuals with MUC1 or UMOD mutations are mildly affected, and their eGFR and that of their donors remains surprisingly stable in most instances after donation. However, at this time individuals with these mutations should not yet be considered as kidney donors until more data is available.
Genetically Affected Donors
| Donor | Mutation | Donor Age | Current Age | Current eGFR |
| 1 | MUC1 | 34 | 52 | 53 |
| 2 | MUC1 | 39 | 44 | 43 |
| 3 | MUC1 | 52 | 55 | 42 |
| 4 | MUC1 | 36 | Deceased | |
| 5 | UMOD | 25 | 34 | 44 |
| 6 | UMOD | No data | ||
| 7 | UMOD | 42 | 58 | 52 |
Funding
- NIDDK Support