Journal
AMERICAN JOURNAL OF KIDNEY DISEASES
Volume 67, Issue 3, Pages 431-438Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.ajkd.2015.10.023
Keywords
End-stage renal disease; chronic kidney disease (CKD); adenine phosphoribosyltransferase (APRT) deficiency; purine metabolism disorder; nephrolithiasis; kidney stone; crystal nephropathy; estimated glomerular filtration rate (eGFR); renal function; acute kidney injury (AKI); disease progression; kidney failure; renal replacement therapy (RRT)
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Funding
- Rare Kidney Stone Consortium, Rare Diseases Clinical Research Network [U54KD083908]
- Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS)
- NCATS
- National Institute of Diabetes and Digestive and Kidney Diseases
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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/1.73 m(2) per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and -5.74 (range, -75.8 to -0.10) mL/min/1.73 m(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. (C) 2016 by the National Kidney Foundation, Inc.
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