Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction

Benedetto, Bernard; Madden, Robert L.; Kurbanov, Alexander; Braden, Gregory; Freeman, Jonathan; Lipkowitz, George S.

doi:10.1016/s0272-6386(05)90001-2

Cited by 37 publications

(33 citation statements)

References 6 publications

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“…3,8 Undiagnosed DHA nephropathy will lead to progressive allograft dysfunction within a few weeks. 2,6,9,10 Less than 12 published cases of APRT deficiency are reported among patients with kidney allografts. A French publication showed that five of six patients were correctly diagnosed only after severe allograft dysfunction caused by intratubular and interstitial precipitation of DHA crystals.…”

Section: Discussionmentioning

confidence: 99%

Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction

Kaartinen¹,

Hemmilä²,

Salmela

et al. 2014

Journal of the American Society of Nephrology

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Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formation of 2,8-dihydroxyadenine, high fluid intake, and low purine diet prevent CKD. Because of symptom variability and lack of awareness, however, the diagnosis is sometimes extremely deferred. We describe a patient with adenine phosphoribosyltransferase deficiency who was diagnosed during evaluation of a poorly functioning second kidney allograft. This report highlights the risk of renal allograft loss in patients with undiagnosed adenine phosphoribosyltransferase deficiency and the need for improved early detection of this disease.

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Section: Discussionmentioning

confidence: 99%

Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction

Kaartinen¹,

Hemmilä²,

Salmela

et al. 2014

Journal of the American Society of Nephrology

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“…APRT deficiency therefore results in high urinary levels of DHA (3). DHA is extremely insoluble in urine and forms crystals, which can gather, grow, and form stones (3,13 ) or precipitate in renal parenchyma, causing crystalline nephropathy (5,6,8,14).…”

Section: Metabolic Mechanismsmentioning

confidence: 99%

“…In some catastrophic situations, APRT remains unrecognized and untreated after ESRD has occurred, allowing DHA nephropathy to recur after renal transplantation, which often leads to irremediable loss of allograft function within a few weeks, unless adequate therapy is rapidly implemented (5,8,(34)(35)(36).…”

Section: Clinical Presentationmentioning

confidence: 99%

“…APRT deficiency is a protean disease that can manifest not only as recurrent urolithiasis but also as crystalline nephropathy. Unfortunately, the diagnosis is often delayed by years after the onset of symptoms, and many patients have already developed irreversible renal failure when adequate treatment is implemented (5)(6)(7)(8). There is a crucial need for earlier recognition and better management of APRT deficiency.…”

Section: Introductionmentioning

confidence: 99%

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Adenine Phosphoribosyltransferase Deficiency

Bollée

Harambat

Bensman

et al. 2012

Clinical Journal of the American Society of Nephrology

105

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SummaryComplete 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 crystals and stones. The disease can present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected. However, the disease can present at any age, and the variability of symptoms can present a diagnostic challenge to many physicians. The early recognition and treatment of APRT deficiency are of crucial importance for preventing irreversible loss of renal function, which still occurs in a nonnegligible proportion of cases. This review summarizes the genetic and metabolic mechanisms underlying stone formation and renal disease, along with the diagnosis and management of APRT deficiency.

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“…Several other cases of crystalline nephropathy recurring after renal transplantation and leading to irremediable loss of allograft function within a few weeks have been reported [6,[8][9][10]26,27]. In most tragic cases, several renal transplantations failed before APRT deficiency was properly recognized and treated [8,10].…”

Section: Number Of Families 56mentioning

confidence: 99%

Adenine Phosphoribosyltransferase Deficiency: An Under-Recognized Cause of Urolithiasis and Renal Failure

Mockel¹

2014

J Nephrol Ther

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Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction

Cited by 37 publications

References 6 publications

Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction

Adenine Phosphoribosyltransferase Deficiency as a Rare Cause of Renal Allograft Dysfunction

Adenine Phosphoribosyltransferase Deficiency

Adenine Phosphoribosyltransferase Deficiency: An Under-Recognized Cause of Urolithiasis and Renal Failure

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