APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair.

Tomek Kofman (1) , Vincent Audard (1) , Céline Narjoz (2) , Olivier Gribouval (3, 4) , Marie Matignon (1) , Claire Leibler (1) , Dominique Desvaux (1) , Philippe Lang (1) , Philippe Grimbert (1)

1 IMRB - Institut Mondor de Recherche Biomédicale
2 U775 (IFR95) - Bases moléculaires de la réponse aux xénobiotiques
3 UMR_S 983 - Néphropathies héréditaires et rein en développement
4 IMAGINE - U1163 - Imagine - Institut des maladies génétiques

We report an occurrence of progressive loss of transplant function and ultimately transplant failure after living related kidney transplantation involving monozygotic twin brothers of Afro-Caribbean origin who were both heterozygous for the G1 and G2 kidney disease risk alleles in the APOL1 gene, which encodes apolipoprotein L-I. A 21-year-old man with end-stage kidney disease of unknown cause received a kidney from his brother, who was confirmed as a monozygotic twin by microsatellite analysis. Thirty months after transplantation, the patient presented with proteinuria and decreased estimated glomerular filtration rate; a biopsy of the transplant showed typical focal segmental glomerulosclerosis lesions. He received steroid therapy, but progressed to kidney failure 5 years later. The twin brother had normal kidney function without proteinuria at the time of transplantation; however, 7 years later, he was found to have decreased estimated glomerular filtration rate (40mL/min/1.73m(2)) and proteinuria (protein excretion of 2.5g/d). APOL1 genotyping revealed that both donor and recipient were heterozygous for the G1 and G2 alleles. This case is in stark contrast to the expected course of kidney transplantation in identical twins and suggests a role for APOL1 polymorphisms in both the donor and recipient.

Mots clés: APOL1 polymorphism; donor; kidney transplantation; outcome

Domaines: Biochimie, Biologie Moléculaire

Tomek Kofman, Vincent Audard, Céline Narjoz, Olivier Gribouval, Marie Matignon, et al.. APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair.: Kidney donation in twins with APOL1 variant. American Journal of Kidney Diseases, 2014, 63 (5), pp.816-9. ⟨10.1053/j.ajkd.2013.12.014⟩. ⟨inserm-01002129⟩