APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair.: Kidney donation in twins with APOL1 variant

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
* Auteur correspondant
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
Abstract : 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.
Keywords : APOL1 polymorphism donor kidney transplantation outcome
Type de document :
Article dans une revue
American Journal of Kidney Diseases, Elsevier, 2014, 63 (5), pp.816-9. 〈10.1053/j.ajkd.2013.12.014〉
Liste complète des métadonnées

Littérature citée [12 références]  Voir  Masquer  Télécharger
http://www.hal.inserm.fr/inserm-01002129
Contributeur : Georges Guellaen <>
Soumis le : jeudi 5 juin 2014 - 16:16:04
Dernière modification le : jeudi 24 mai 2018 - 12:06:01
Document(s) archivé(s) le : vendredi 5 septembre 2014 - 12:16:15

Fichiers

Kofman_et_al_ajkd_R2_final.pdf
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

UNIV-PARIS5 | IMRB | UPEC-UPEM | USPC

Citation

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, Elsevier, 2014, 63 (5), pp.816-9. 〈10.1053/j.ajkd.2013.12.014〉. 〈inserm-01002129〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

1624

Téléchargements de fichiers

617

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD