Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Abstract

BACKGROUND:

Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency.

STUDY DESIGN:

An observational cohort study.

SETTING & PARTICIPANTS:

All patients enrolled in the APRT Deficiency Registry of the Rare Kidney Stone Consortium.

OUTCOMES:

Kidney stones, acute kidney injury (AKI), stage of CKD, end-stage renal disease, estimated glomerular filtration rate (eGFR), and changes in eGFR.

MEASUREMENTS:

Serum creatinine and eGFR calculated using creatinine-based equations.

RESULTS:

Of 53 patients, 30 (57%) were females and median age at diagnosis was 37.0 (range, 0.6-67.9) years. Median duration of follow-up was 10.3 (range, 0.0-31.5) years. At diagnosis, kidney stones had developed in 29 (55%) patients and 20 (38%) had CKD stages 3 to 5, including 11 (21%) patients with stage 5. At latest follow-up, 33 (62%) patients had experienced kidney stones; 18 (34%), AKI; and 22 (42%), CKD stages 3 to 5. Of 14 (26%) patients with stage 5 CKD, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 (55%) patients. The median eGFR slope was -0.38 (range, -21.99 to 1.42) mL/min/1.73m(2) per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and -5.74 (range, -75.8 to -0.10) mL/min/1.73m(2) per year in those not treated prior to the development of stage 5 CKD (P=0.001).

LIMITATIONS:

Use of observational registry data.

CONCLUSIONS:

Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. Advanced CKD without a history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression.

• Authors: Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M Agustsdottir, Olafur S Indridason, Vidar O Edvardsson
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 67 Issue 3 Pg. 431-8 (Mar 2016) ISSN: 1523-6838 [Electronic] United States
• PMID: 26724837 (Publication Type: Journal Article, Observational Study, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Chemical References

• Adenine Phosphoribosyltransferase

Topics

• Acute Kidney Injury (diagnosis, epidemiology, etiology)
• Adenine Phosphoribosyltransferase (deficiency, metabolism)
• Adult
• Disease Progression
• Early Medical Intervention (methods, statistics & numerical data)
• Female
• Follow-Up Studies
• Glomerular Filtration Rate
• Humans
• Iceland (epidemiology)
• Kidney (metabolism, physiopathology)
• Kidney Calculi (diagnosis, epidemiology, etiology, prevention & control)
• Kidney Failure, Chronic (diagnosis, epidemiology, etiology)
• Kidney Function Tests
• Male
• Metabolism, Inborn Errors (complications, diagnosis, epidemiology, metabolism)
• Prevalence
• Renal Replacement Therapy (methods, statistics & numerical data)
• Urolithiasis (complications, diagnosis, epidemiology, metabolism)