Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
AuthorsRunolfsdottir, Hrafnhildur L
Goldfarb, David S
Sayer, John A
Rich, Peter R
Edvardsson, Vidar O
MetadataShow full item record
CitationRunolfsdottir HL, Lin TL, Goldfarb DS, et al. Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series [published online ahead of print, 2020 May 12]. Urolithiasis. 2020;10.1007/s00240-020-01187-6. doi:10.1007/s00240-020-01187-6
AbstractWe have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones. The objective of this study was to examine the accuracy of stone analysis for identification of DHA. 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. The diagnosis was verified by measurement of APRT enzyme activity or genetic testing. 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. The ATR-FTIR spectrum of the kidney stone matched the crystalline DHA spectrum and was used for comparison with available infrared spectra of stone samples from the patients. Of 17 patients referred, 14 had sufficient data available to be included in the study. In all 14 cases, the stone analysis had been performed by FTIR spectroscopy. The diagnosis of APRT deficiency was confirmed in seven cases and rejected in the remaining seven cases. Comparison of the ATR-FTIR spectrum of the DHA stone with the FTIR spectra from three patients who did not have APRT deficiency showed no indication of DHA as a stone component. Misidentification of DHA as a kidney stone component by clinical laboratories appears common among patients referred to our program. Since current clinical protocols used to interpret infrared spectra for stone analysis cannot be considered reliable for the identification of DHA stones, the diagnosis of APRT deficiency must be confirmed by other methods. Keywords: APRT deficiency; Infrared spectroscopy; Kidney stone composition; Misdiagnosis; Nephrolithiasis.
DescriptionTo access publisher's full text version of this article click on the hyperlink below
- [2,8-dihydroxyadenine urolithiasis: case report and literature review].
- Authors: Arancio M, Ranzoni S, Delsignore A, Landi G, Maffei N, Marcato M, Mina A, Martinengo C
- Issue date: 2011 Oct-Dec
- Adenine Phosphoribosyltransferase Deficiency
- Authors: Edvardsson VO, Sahota A, Palsson R, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A
- Issue date: 1993
- Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
- Authors: Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO
- Issue date: 2019 Sep - Oct
- Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
- Authors: Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R
- Issue date: 2018 Feb
- Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.
- Authors: Bollée G, Cochat P, Daudon M
- Issue date: 2015