Adenine Phosphoribosyltransferase Deficiency

Common Name(s)

Adenine Phosphoribosyltransferase Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adenine Phosphoribosyltransferase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adenine Phosphoribosyltransferase Deficiency" returned 22 free, full-text research articles on human participants. First 3 results:

Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
 

Author(s): 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.. 2016 Nov;1036-1037():170-177.

 

Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates ...

Last Updated: 22 Oct 2016

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Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
 

Author(s): Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger M Agustsdottir, Olafur S Indridason, Vidar O Edvardsson

Journal: Am. J. Kidney Dis.. 2016 Mar;67(3):431-8.

 

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 ...

Last Updated: 26 Feb 2016

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Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
 

Author(s): Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella, Elena Costa

Journal:

 

Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified ...

Last Updated: 12 Jul 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adenine Phosphoribosyltransferase Deficiency" returned 4 free, full-text review articles on human participants. First 3 results:

Adenine phosphoribosyltransferase deficiency.
 

Author(s): Guillaume Bollée, Jérôme Harambat, Albert Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot

Journal: Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7.

 

Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary ...

Last Updated: 10 Sep 2012

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[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report].
 

Author(s): T Ohne, A Fujito, K Koga, Y Imaide, M Uchida

Journal: Hinyokika Kiyo. 1998 Oct;44(10):725-8.

 

A 35-year-old female was referred to our clinic with a complaint of left flank pain in 1993. Drip infusion pyelography showed a filling defect of 25 x 24 mm in size in the left ureteropelvic junction. Computed tomography and ultrasonography revealed it as the renal stone. Percutaneous ...

Last Updated: 16 Feb 1999

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[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
 

Author(s): K Kitami, Y Kinoshita, M Hosaka

Journal: Hinyokika Kiyo. 1990 Jan;36(1):73-6.

 

A 37-year old female was admitted with a complaint of gross hematuria. Intravenous pyelography and retrograde pyelography showed right non-functioning kidney with a radiolucent stone in the ureter. Computerized tomographic scan revealed right hydronephrosis and ureteral stone. Ureterolithotomy ...

Last Updated: 12 Apr 1990

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Health-related Quality of Life in Rare Kidney Stone
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease

 

Last Updated: 13 Dec 2016

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Prospective Research Rare Kidney Stones (ProRKS)
 

Status: Recruiting

Condition Summary: Hyperoxaluria; Cystinuria; Dent Disease; Lowe Syndrome; Adenine Phosphoribosyltransferase Deficiency

 

Last Updated: 19 Sep 2016

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 5 Jul 2016

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