Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

Krishnappa, Pramod; Krishnamoorthy, Venkatesh; Gowda, Kiran Krishne

doi:10.4103/iju.iju_419_16

Cited by 8 publications

(6 citation statements)

References 5 publications

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“…We reviewed other cases of DHA crystal nephropathy in the English published literature ( Table 2 ). To the best of our knowledge, ours is the third case reported from India [ 7 , 8 ]. However, the patient in our case did not have a history of renal stones preceding development of renal failure.…”

Section: Discussionmentioning

confidence: 99%

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

Verma

Manickam

Prasad

et al. 2018

Kidney Res Clin Pract.

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Adenine phosphoribosyltransferase enzyme deficiency is a rare, autosomal recessive disorder. It is a disease limited to the renal system and usually presents with urolithiasis. Herein, we report a young female with dihydroxyadenine (DHA) crystal-induced nephropathy presenting with rapidly progressive renal failure. DHA crystals can be easily diagnosed by their pathognomic color and shape in urine and biopsy specimens. A high index of clinical suspicion helps in the early diagnosis of this potentially treatable renal disease.

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Section: Discussionmentioning

confidence: 99%

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

Verma

Manickam

Prasad

et al. 2018

Kidney Res Clin Pract.

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“…Earlier reported cases of APRT deficiency from India include two cases in early childhood and one case in a young female. [ 14 15 16 ] Both children (3 years and 2 years) presented with radiolucent stone with acute kidney injury in one and urinary tract infection in another. The only adult reported case was in a 24-year-old female, who presented with crystal nephropathy and rapidly progressive RF but had no stones.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

A rare case of APRT deficiency with end-stage renal failure and successful renal transplant

2021

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Renal calculus disease is a common cause of renal injury. However, crystal nephropathy (uric acid, oxalate, and dihydroxyadenine) can present as chronic kidney disease without any evidence of renal stones. If left undiagnosed, there is a potential chance of recurrence in the allograft leading to graft failure after transplantation. Pretransplant identification and management can avoid such complications. Here, we describe a case of APRT deficiency leading to crystal nephropathy and end-stage renal failure in a patient who underwent a successful kidney transplant.

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“…It is noteworthy that the majority of misidentified stone specimens from the patients included in the current study reportedly contained less than 70% DHA. Stones from patients with APRT deficiency are typically composed of pure DHA [23][24][25], although occasional mixed stones containing calcium salts have been reported [26,27]. Thus, stone analysis reports of mixed stones containing DHA should raise a suspicion of erroneous interpretation.…”

Section: Discussionmentioning

confidence: 99%

Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series

et al. 2020

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We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of a kidney stone component as 2,8-dihydroxyadenine (DHA). The objective of this study was to examine the accuracy of stone analysis for identification of DHA. Medical records of patients referred to the Rare Kidney Stone Consortium APRT DeficiencyResearch Program in 2010-2018 with a presumptive diagnosis of APRT deficiency based on kidney stone analysis were reviewed. The diagnosis was verified by measurement of APRT enzyme activity or genetic testing. Available infrared spectra of patients' stone materials were compared with an attenuated total reflection-Fourier transform infrared (ATR-FTIR) reference spectrum of pure crystalline DHA generated in our laboratory. In addition, an ATR-FTIR spectrum of a stone sample obtained from one of the patients was recorded. . Of 17 patients referred following identification of DHA kidney stones a diagnosis of APRT deficiency based on kidney stone analysis, 14 had sufficient data available to be included in the study. In all cases, the stone analysis had been performed by ATR-FTIR spectroscopy. In 7 cases, the diagnosis of APRT deficiency was confirmed by demonstrating abolished APRT activity and/or pathogenic biallelic APRT mutations. The ATR-FTIR analysis of a kidney stone from one of these patients matched the reference DHA spectrum. In the 7 remaining cases, the diagnosis of APRT deficiency was rejected. Stone samples these patients had been reported to contain DHA, ranging from 12-100% (median of 60%) in 6 cases and trace amounts in 1 sample. Comparison of available infrared spectra of stone specimens from three of these cases with the ATR-FTIR reference DHA spectrum of a genuine DHA stone specimen showed no detectable DHA in any of the stone samples.

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Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

Cited by 8 publications

References 5 publications

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

A rare case of APRT deficiency with end-stage renal failure and successful renal transplant

Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series

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