1. APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair. : Kidney donation in twins with APOL1 variant
- Author
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Kofman, Tomek, Audard, Vincent, Narjoz, Céline, Gribouval, Olivier, Matignon, Marie, Leibler, Claire, Desvaux, Dominique, Lang, Philippe, Grimbert, Philippe, Institut Mondor de Recherche Biomédicale ( IMRB ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Bases moléculaires de la réponse aux xénobiotiques ( U775 (IFR95) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Néphropathies héréditaires et rein en développement ( UMR_S 983 ), CHU Necker - Enfants Malades [AP-HP]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Assistance publique - Hôpitaux de Paris (AP-HP), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Bases moléculaires de la réponse aux xénobiotiques (U775 (IFR95)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Néphropathies héréditaires et rein en développement (UMR_S 983), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
- Subjects
MESH : Polymorphism, Genetic ,MESH : Male ,MESH: Renal Insufficiency, Chronic ,MESH : Young Adult ,APOL1 polymorphism ,kidney transplantation ,MESH : Genotype ,MESH : Renal Insufficiency, Chronic ,MESH: Lipoproteins, HDL ,MESH : Diseases in Twins ,MESH: Kidney Transplantation ,MESH: Genotype ,MESH: Biopsy ,MESH: Apolipoproteins ,MESH: Polymorphism, Genetic ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,donor ,MESH: Living Donors ,MESH: Humans ,urogenital system ,MESH : Humans ,MESH: Genetic Predisposition to Disease ,MESH : Follow-Up Studies ,MESH: Follow-Up Studies ,MESH: Kidney ,MESH: Male ,MESH : Kidney ,MESH : Twins, Monozygotic ,MESH: Young Adult ,MESH : Biopsy ,MESH : Living Donors ,outcome ,MESH : Lipoproteins, HDL ,MESH : Kidney Transplantation ,MESH : Genetic Predisposition to Disease ,MESH: Twins, Monozygotic ,MESH: Diseases in Twins ,MESH : Apolipoproteins - Abstract
International audience; 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.
- Published
- 2014
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