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Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

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Authors
Runolfsdottir, Hrafnhildur Linnet
Palsson, Runolfur
Agustsdottir, Inger M Sch
Indridason, Olafur S
Li, Jennifer
Dao, Myriam
Knebelmann, Bertrand
Milliner, Dawn S
Edvardsson, Vidar O
Issue Date
2020-11

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Citation
Runolfsdottir HL, Palsson R, Agustsdottir IMS, Indridason OS, Li J, Dao M, Knebelmann B, Milliner DS, Edvardsson VO. Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency. Transplantation. 2020 Oct;104(10):2120-2128. doi: 10.1097/TP.0000000000003088
Abstract
Background: Adenine phosphoribosyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney disease (CKD) which is characterized by 2,8-dihydroxyadenine renal parenchymal crystal deposition. The aim of this study was to examine outcomes of kidney transplantation in APRT deficiency patients. Methods: Included were 13 patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, 2 from Westmead Hospital in Sydney, Australia, and 2 from Necker Hospital in Paris, France. The CKD-EPI and CKiD equations were used to calculate glomerular filtration rate estimates. Allograft survival was analyzed employing the Kaplan-Meier method. The Wilcoxon-Mann-Whitney test was used to compare alllograft outcomes according to xanthine oxidoreductase (XOR) inhibitor treatment status at transplantation. Results: Seventeen patients (9 females) received 22 kidney transplants. Age at first transplantation was 47.2 (14.9-67.0) years. Ten patients received XOR inhibitor therapy pretransplant (11 allografts), while 8 patients did not receive such treatment before transplantation (11 allografts). Two-year allograft survival was 91% and 55% in the 2 groups, respectively (P = 0.16). The median (range) estimated glomerular filtration rate at 2 years posttransplant was 61.3 (24.0-90.0) mL/min/1.73 m when XOR inhibitor therapy was initiated before transplantation, and 16.2 (10.0-39.0) mL/min/1.73 m (P = 0.009) when such treatment was not administered pretransplant. Conclusions: Kidney allograft outcomes are good in APRT deficiency patients beginning XOR inhibitor therapy pretransplant. Delay in such treatment is a major cause of premature graft loss in these patients. Increased awareness among clinicians is imperative, promoting early diagnosis of APRT deficiency and pharmacotherapy initiation before kidney transplantation.
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https://journals.lww.com/transplantjournal/pages/articleviewer.aspx?year=2020&issue=10000&article=00023&type=Fulltext
ae974a485f413a2113503eed53cd6c53
10.1097/TP.0000000000003088
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English Journal Articles (Peer Reviewed)

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