Adenine phosphoribosyltransferase deficiency

An autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the KIDNEY, resulting in crystalluria and KIDNEY STONES. Clinical features include RENAL COLIC; HEMATURIA; URINARY TRACT INFECTION; DYSURIA, and sometimes RENAL FAILURE. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic. Caused by mutations in the APRT gene. OMIM: 614723

Also Known As:

Networked: 117 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Palsson, Runolfur: 10 articles (01/2021 - 07/2005)
2.	Edvardsson, Vidar O: 9 articles (01/2021 - 10/2013)
3.	Daudon, Michel: 7 articles (01/2015 - 11/2005)
4.	Indridason, Olafur S: 6 articles (01/2021 - 07/2005)
5.	Bollée, Guillaume: 6 articles (01/2015 - 04/2010)
6.	Runolfsdottir, Hrafnhildur L: 5 articles (01/2021 - 11/2016)
7.	Ceballos-Picot, Irène: 5 articles (01/2014 - 04/2010)
8.	Sahota, Amrik: 5 articles (04/2010 - 01/2002)
9.	Knebelmann, Bertrand: 4 articles (10/2020 - 04/2010)
10.	Bensman, Albert: 4 articles (01/2014 - 04/2010)

Related Diseases

1.	Primary Hyperoxaluria (Oxaluria, Primary) 01/01/2015 - "Primary hyperoxaluria and APRT deficiency are rare inborn errors of human metabolism. " 01/01/2015 - "Increasing transplant physicians knowledge of APRT deficiency and primary hyperoxaluria should enable them to implement adequate diagnostic and therapeutic interventions, thereby achieving good outcomes after kidney transplantation. " 01/01/2015 - "Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria." 11/01/2005 - "In particular, several patients with primary hyperoxaluria or 2,8-dihydroxyadeninuria were diagnosed while already on dialysis or after unsuccessful kidney transplantation, due to wrong initial diagnosis. " 01/01/2015 - "Patients with APRT deficiency or primary hyperoxaluria may develop ESRD as a result of crystalline nephropathy. "
2.	Lithiasis 01/01/2012 - "Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure." 08/20/1996 - "Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis." 12/01/1988 - "These data indicate that the wide distribution of the unique mutant gene, APRT*J, that was created many years ago in a Japanese ancestor, explains at least in part the large number of 2,8-dihydroxyadenine lithiasis and adenine phosphoribosyltransferase deficiency families among the Japanese." 06/07/1980 - "A study of the 7 cases of APRT deficiency hitherto published (including 5 cases with lithiasis) shows that the diagnosis is rarely made, since the conventional methods of urinary stone analysis are unable to distinguish dihydroxyadenine from uric acid. " 01/01/2000 - "In this study, we found 2,8-dihydroxyadenine (DHA) lithiasis in Japanese patients who were heterozygous for Japanese-type (type II) adenine phosphoribosyltransferase (APRT) deficiency (APRT*J). "
3.	Nephrolithiasis 07/01/2022 - "The study results showed that inclusion of genetic determination of APRT deficiency in the differential diagnosis of crystalline nephropathy, even in the absence of a history of nephrolithiasis, can improve renal outcomes and may improve allograft survival." 03/01/2021 - "This case report highlights the need to contemplate the diagnosis of DHA crystalline nephropathy in young patients with nephrolithiasis and the identification of a rare genetic mutation, which is being reported for the first time in India." 10/01/2018 - "APRT deficiency is associated with slowly progressive CKD that occurs independently of nephrolithiasis. " 10/01/2018 - "We reviewed APRT deficiency reported in the literature to determine the loss of kidney function in individuals with untreated APRT deficiency and its relationship to nephrolithiasis. " 03/01/2016 - "Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. "
4.	Kidney Calculi (Kidney Stone) 09/01/2019 - "Patients enrolled in the APRT Deficiency Registry and Biobank of the Rare Kidney Stone Consortium (http://www.rarekidneystones.org/) who had provided 24-h and first-morning void urine samples for DHA measurement were eligible for the study. " 10/01/2020 - "Included were 13 patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, 2 from Westmead Hospital in Sydney, Australia, and 2 from Necker Hospital in Paris, France. " 08/01/2020 - "Attenuated total reflection-Fourier transform infrared (ATR-FTIR) spectra of pure crystalline DHA and a kidney stone obtained from one of the confirmed APRT deficiency cases were generated. " 08/01/2020 - "Medical records of patients referred to the APRT Deficiency Research Program of the Rare Kidney Stone Consortium in 2010-2018 with a diagnosis of APRT deficiency based on kidney stone analysis were reviewed. " 01/01/2019 - "The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorder before the age of 18 years, was studied. "
5.	Urinary Calculi (Urinary Calculus) 06/07/1980 - "A study of the 7 cases of APRT deficiency hitherto published (including 5 cases with lithiasis) shows that the diagnosis is rarely made, since the conventional methods of urinary stone analysis are unable to distinguish dihydroxyadenine from uric acid. " 01/01/2021 - "WES identified eight different conditions in these patients, i.e., autosomal dominant tubulointerstitial kidney disease associated with UMOD mutation; recurrent urinary stones associated with APRT deficiency; Ayme-Gripp syndrome associated with MAF mutation; short rib-thoracic dysplasia associated with IFT140 mutation; renal coloboma syndrome associated with PAX2 mutations; idiopathic infantile hypercalcemia associated with CYP24A1 mutation; and hypomagnesemia associated with TRPM mutation. "

Related Drugs and Biologics

1.	Adenine Phosphoribosyltransferase
2.	2,8-dihydroxyadenine
3.	purine
4.	Adenine
5.	Enzymes
6.	Transferases
7.	Allopurinol (Remid)
8.	Uric Acid (Urate)
9.	Ribose (D-Ribose)
10.	Purine-Nucleoside Phosphorylase

Related Therapies and Procedures

1.	Kidney Transplantation
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow)
3.	Therapeutics
4.	Transplantation
5.	Renal Dialysis (Hemodialysis)