Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

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.

• Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M Sch Agustsdottir, Olafur S Indridason, Jennifer Li, Myriam Dao, Bertrand Knebelmann, Dawn S Milliner, Vidar O Edvardsson
• Journal: Transplantation (Transplantation) Vol. 104 Issue 10 Pg. 2120-2128 (10 2020) ISSN: 1534-6080 [Electronic] United States
• PMID: 31880754 (Publication Type: Journal Article, Multicenter Study, Observational Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Enzyme Inhibitors
• Febuxostat
• Allopurinol
• Xanthine Oxidase
• Adenine Phosphoribosyltransferase

Topics

• Adenine Phosphoribosyltransferase (deficiency)
• Adolescent
• Adult
• Aged
• Allopurinol (therapeutic use)
• Enzyme Inhibitors (therapeutic use)
• Europe
• Febuxostat (therapeutic use)
• Female
• Graft Survival
• Humans
• India
• Kidney Failure, Chronic (diagnosis, etiology, surgery)
• Kidney Transplantation (adverse effects)
• Male
• Metabolism, Inborn Errors (complications, diagnosis, drug therapy)
• Middle Aged
• New South Wales
• Retrospective Studies
• Risk Factors
• Time Factors
• Treatment Outcome
• United States
• Urolithiasis (complications, diagnosis, drug therapy)
• Xanthine Oxidase (antagonists & inhibitors)
• Young Adult