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10.1053/j.ajkd.2015.10.023 http://scihub22266oqcxt.onion/10.1053/j.ajkd.2015.10.023 C4819988!4819988!26724837     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Kidney+Dis 2016 ; 67 (3): 431-8 Nephropedia Template TP {{tp|p=26724837|t=2016. Kidney Disease in Adenine Phosphoribosyltransferase Deficiency |pdf=|usr=}}{{26724837}} gab.com Text Kidney Disease in Adenine Phosphoribosyltransferase Deficiency JO: Am J Kidney Dis http://www.kidney.de/pget.php?&tw=1&pmid=26724837 #FOAvip 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 and kidney failure, 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 female and median age at diagnosis was 37.0 (range, 0.6?67.9) years. The median duration of follow-up was 10.3 (range, 0.0?31.5) years. At diagnosis, kidney stones had developed in 29 patients (55%) and 20 (38%) had CKD stages 3?5, including 11 patients (21%) with stage 5. At latest follow-up, 33 patients (62%) had had kidney stones; 18 (34%), AKI; and 22 (42%), CKD stage 3?5. Of the 14 (26%) patients with CKD stage 5, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 patients (55%). The median eGFR slope was ?0.38 (range, ?21.99 to 1.42) mL/min/1.73 m2 per year in patients receiving treatment with xanthine dehydrogenase inhibitor and ?5.74 (range, ?75.8 to ?0.10) mL/min/1.73 m2 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, while nephrolithiasis is the most common presentation. Advanced CKD without history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression. Twit Text FOAVip Kidney Disease in Adenine Phosphoribosyltransferase Deficiency ????Am J Kidney Dis http://www.kidney.de/pget.php?&tw=1&pmid=26724837 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26724837 #FOAvip English Wikipedia <ref>{{Cite pmid|26724837}}</ref> Kidney Disease in Adenine Phosphoribosyltransferase Deficiency #MMPMID26724837 Runolfsdottir HL; Palsson R; Sch. Agustsdottir IM; Indridason OS; Edvardsson VO Am J Kidney Dis 2016[Mar]; 67 (3): 431-8 PMID26724837show ga 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 and kidney failure, 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 female and median age at diagnosis was 37.0 (range, 0.6?67.9) years. The median duration of follow-up was 10.3 (range, 0.0?31.5) years. At diagnosis, kidney stones had developed in 29 patients (55%) and 20 (38%) had CKD stages 3?5, including 11 patients (21%) with stage 5. At latest follow-up, 33 patients (62%) had had kidney stones; 18 (34%), AKI; and 22 (42%), CKD stage 3?5. Of the 14 (26%) patients with CKD stage 5, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 patients (55%). The median eGFR slope was ?0.38 (range, ?21.99 to 1.42) mL/min/1.73 m2 per year in patients receiving treatment with xanthine dehydrogenase inhibitor and ?5.74 (range, ?75.8 to ?0.10) mL/min/1.73 m2 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, while nephrolithiasis is the most common presentation. Advanced CKD without history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression. äKidney Disease in Adenine Phosphoribosyltransferase Deficiency (epmc).pdf DeepDyve Pubget Overpricing