Hrafnhildur Linnet Runolfsdottir1, Runolfur Palsson2, Inger M Agustsdottir3, Olafur S Indridason4, Vidar O Edvardsson5. 1. Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 2. Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 3. Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 4. Division of Nephrology, Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 5. Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. Electronic address: vidare@lsh.is.
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.
BACKGROUND:Adenine phosphoribosyltransferase (APRT) deficiency is a purinemetabolism 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: John C Lieske; Andrew D Rule; Amy E Krambeck; James C Williams; Eric J Bergstralh; Ramila A Mehta; Thomas P Moyer Journal: Clin J Am Soc Nephrol Date: 2014-10-02 Impact factor: 8.237
Authors: Andrew S Levey; Lesley A Stevens; Christopher H Schmid; Yaping Lucy Zhang; Alejandro F Castro; Harold I Feldman; John W Kusek; Paul Eggers; Frederick Van Lente; Tom Greene; Josef Coresh Journal: Ann Intern Med Date: 2009-05-05 Impact factor: 25.391
Authors: Margret Thorsteinsdottir; Unnur A Thorsteinsdottir; Finnur F Eiriksson; Hrafnhildur L Runolfsdottir; Inger M Sch Agustsdottir; Steinunn Oddsdottir; Baldur B Sigurdsson; Hordur K Hardarson; Nilesh R Kamble; Snorri Th Sigurdsson; Vidar O Edvardsson; Runolfur Palsson Journal: J Chromatogr B Analyt Technol Biomed Life Sci Date: 2016-09-14 Impact factor: 3.205
Authors: Oleh Akchurin; Angara Sureshbabu; Steve B Doty; Yuan-Shan Zhu; Edwin Patino; Susanna Cunningham-Rundles; Mary E Choi; Adele Boskey; Stefano Rivella Journal: Am J Physiol Renal Physiol Date: 2016-07-20
Authors: Hrafnhildur L Runolfsdottir; Tzu-Ling Lin; David S Goldfarb; John A Sayer; Mini Michael; David Ketteridge; Peter R Rich; Vidar O Edvardsson; Runolfur Palsson Journal: Urolithiasis Date: 2020-05-12 Impact factor: 3.436
Authors: Vidar O Edvardsson; Hrafnhildur L Runolfsdottir; Unnur A Thorsteinsdottir; Inger M Sch Agustsdottir; G Steinunn Oddsdottir; Finnur Eiriksson; David S Goldfarb; Margret Thorsteinsdottir; Runolfur Palsson Journal: Eur J Intern Med Date: 2017-12-12 Impact factor: 4.487
Authors: Barbara Mara Klinkhammer; Sonja Djudjaj; Uta Kunter; Runolfur Palsson; Vidar Orn Edvardsson; Thorsten Wiech; Margret Thorsteinsdottir; Sverrir Hardarson; Orestes Foresto-Neto; Shrikant R Mulay; Marcus Johannes Moeller; Wilhelm Jahnen-Dechent; Jürgen Floege; Hans-Joachim Anders; Peter Boor Journal: J Am Soc Nephrol Date: 2020-02-21 Impact factor: 10.121