Table 2.
Outcome of testing in kidney transplant recipients (n = 10) and their related (n = 14) living donor candidates.
| Recipients | Living donors | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features | Subject | FH | Sex/age/ethnicity | Genetic testing | ACMG criteria | Genetic diagnosis | Subject | Sex/age/ethnicity | Relation to recipient | Donor clinical evaluation | Impact of genetic diagnosis |
| Microhematuria, proteinuria, TBMD | 29–1 | Y | F/59/EUR | COL4A3 p.Gly934Arg | LP: PM1, PM2, PP1, PP3 | AD Alport | 29–2 | M/51/EUR | Brother | Microhematuria | Positive for familial variant, not allowed to donate |
| 29–3 | M/54/EUR | Brother | Microhematuria | Positive for familial variant, not allowed to donate | |||||||
| FSGS-ESRD | 76–1 | Y | M/67/EUR | ARHGAP24 p.Gly493Arg | VUS: PM2, PP3 | None | 76–2 | M/25/EUR | Son | Negative | Positive for ARHGAP24 variant, not allowed to donate |
| 76–3 | M/35/EUR | Son | Negative | Positive for ARHGAP24 variant, not allowed to donate | |||||||
| 76–4 | F/33/EUR | Daughter | Negative | Negative for ARHGAP24 variant, allowed to donate | |||||||
| Heavy proteinuria ESRD | 77–1 | N | M/59/EUR | Negative | None | 77–2 | F/19/EUR | Daughter | Negative | Negative for any causal variants, allowed to donate | |
| Interstitial nephritis | 78–1 | Y | M/45/EUR | MUC1 insC in VNTR | LP: PVS1, PS1, PM2, PP3 | ADTKD-MUC1 | 78–2 | F/43/EUR | Sister | Negative | Negative for familial MUC1, allowed to donate |
| 78–3 | M/48/EUR | Brother | Negative | Negative for familial MUC1, allowed to donate | |||||||
| ADPKD | 79–1 | N | M/28/EUR | PKD1 p.Glu2771Lys; | P: PS1, PM1, PM2,PP3, PP5 | ADPKD-PKD1 | 79–2 | F/26/EUR | Sister | Negative | Negative for familial PKD1 variant, allowed to donate |
| C3 glomerulopathy | 80–1 | N | M/25/AFR | CFH p.Ser884Tyr | VUS: PM2, PP3 | None | 80–2 | F/44/EUR | Aunt | Negative | Negative for familial CFH variant; allowed to donate |
| FSGS-ESRD | 81–1 | Y | M/54/EUR | Negative (incl. MUC1) | None | 81–2 | M/22/EUR | Son | Negative | Negative for any causal variants, allowed to donate | |
| Proteinuria, hematuria, ESRD | 82–1 | Y | F/37/EUR,LAT | MYO1E p.Glu154Gln (AR) | VUS: PM2, PP3 | None | 82–2 | M/35/EUR, LAT | Brother | Negative | Negative for causal variants, allowed to donate |
| ESRD, bland urine | 83–1 | Y | F/61/EUR | CLCNKB p.Gly164Arg; NPHP4 p.Phe729Ser | VUS: PM2, PP3; VUS: PM2, PP3; | None | 83–2 | F/40/EUR | Daughter | Negative | Negative for causal variants, allowed to donate |
| Bilateral VUR, MCDK | 84–1 | N | M/1/EUR | Negative | None | 84–2 | M/36/EUR | Father | Few cysts | Affected son negative for causal variants | |
Living donors who underwent testing for APOL1 risk alleles alone are not included. Subject 29–1 is also in Table 1.ACMG American College of Medical Genetics and Genomics, AD autosomal dominant, ADPKD autosomal dominant polycystic kidney disease, ADTKD autosomal dominant tubulointerstitial kidney disease, AFR African/African American, AR autosomal recessive, ESRD end-stage renal disease, EUR Caucasian, FH family history, FSGS focal segmental glomerulosclerosis, LAT Hispanic or Latino, LP likely pathogenic, MCKD medullary cystic kidney disease, P pathogenic, TBMD thin basement membrane disease, VUR vesicoureteric reflux, VUS variant of unknown significance.