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dc.contributor.authorRunolfsdottir, Hrafnhildur Linnet*
dc.contributor.authorPalsson, Runolfur*
dc.contributor.authorAgustsdottir, Inger M.*
dc.contributor.authorIndridason, Olafur S.*
dc.contributor.authorEdvardsson, Vidar O.*
dc.date.accessioned2016-04-28T10:07:30Zen
dc.date.available2016-04-28T10:07:30Zen
dc.date.issued2016-03en
dc.date.submitted2016en
dc.identifier.citationAmerican Journal of Kidney Diseases 2016, 67 (3):431- 438en
dc.identifier.issn02726386en
dc.identifier.doi10.1053/j.ajkd.2015.10.023en
dc.identifier.urihttp://hdl.handle.net/2336/607264en
dc.descriptionTo access publisher's full text version of this article click on the hyperlink at the bottom of the pageen
dc.description.abstractBACKGROUND: 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.
dc.description.sponsorshipRare 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 Diseasesen
dc.language.isoenen
dc.publisherW B Saunders Co-Elsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S027263861501344Xen
dc.rightsArchived with thanks to American Journal of Kidney Diseasesen
dc.subjectNýrnabilunen
dc.subjectBlóðskilunen
dc.subjectNEP12
dc.subjectPED12
dc.subject.meshKidney Failure, Chronicen
dc.subject.meshAcute Kidney Injuryen
dc.subject.meshAdenine Phosphoribosyltransferaseen
dc.subject.meshKidney Calculien
dc.subject.meshNephrolithiasisen
dc.subject.meshRenal Replacement Therapyen
dc.titleKidney Disease in Adenine Phosphoribosyltransferase Deficiencyen
dc.typeArticleen
dc.contributor.department[ 1 ] Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland [ 2 ] Landspitali Natl Univ Hosp Iceland, Internal Med Serv, Div Nephrol, Reykjavik, Iceland [ 3 ] Landspitali Natl Univ Hosp Iceland, Childrens Med Ctr, Off 21-D, IS-101 Reykjavik, Icelanden
dc.identifier.journalAmerican Journal of Kidney Diseasesen
dc.rights.accessClosed - Lokaðen
html.description.abstractBACKGROUND: 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.


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