Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Sep;37(3):287-291.
doi: 10.23876/j.krcp.2018.37.3.287. Epub 2018 Sep 30.

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

Ritu Verma  1 , Manickam Niraimathi  1 , Pallavi Prasad  1 , Vinita Agrawal  1
Affiliations

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure

Ritu Verma et al. Kidney Res Clin Pract. 2018 Sep.

Abstract

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.

Keywords: Adenine phosphoribosyltransferase; Crystal nephropathy; Dihydroxyadenine crystals.

PubMed Disclaimer

Conflict of interest statement

Conflicts of interest All authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1. Renal biopsy findings
(A) Marked tubular atrophy, interstitial inflammation, and fibrosis are shown. Higher magnification shows 2,8-dihydroxyadenine (DHA) crystals within the tubular lumens (B) with giant cell reaction in the interstitium and also in the vascular lumen (C). (D, E) The crystals are argyrophilic with silver methenamine and bluish green on Masson’s trichrome stain. (F) The crystals are seen within a tubular lumen under polarized light microscopy.
Figure 2
Figure 2. Urine examination (×40)
(A) The typical brown dihydroxyadenine crystals have a dark outline and central spicules in conventional light microscopy. (B) The crystals appear yellow under polarized light microscopy.
Figure 3
Figure 3. Mechanisms of adenine phosphoribosyltransferase (APRT) deficiency
Adenine cannot be converted to adenosine and is thus oxidized to 2,8 dihydroxyadenine (DHA) by xanthine dehydrogenase (XDH) via an 8-hydroxy intermediate. AMP, adenosine monophosphate.
See this image and copyright information in PMC

References

    1. Finn LS. Renal disease caused by inborn error of metabolism, storage diseases, and hemoglobinopathies. In: Jennette JC, Olson JL, Silva FG, D’Agati VD, editors. Heptinstall’s Pathology of the Kidney. 7th edition. Philadelphia: Lippincott Williams & Wilkins; 2015. pp. 1252–1253.
    1. Mac-Way F, Desmeules S, Latulippe E, de Cotret PR, Agharazii M. 2,8-Dihydroxyadeninuria-induced progressive renal failure. NDT Plus. 2008;1:437–439. - PMC - PubMed
    1. Brown HA. Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrol Dial Transplant. 1998;13:998–1000. doi: 10.1093/ndt/13.4.998. - DOI - PubMed
    1. Zaidan M, Palsson R, Merieau E, et al. Recurrent 2,8-dihy-droxyadenine nephropathy: a rare but preventable cause of renal allograft failure. Am J Transplant. 2014;14:2623–2632. doi: 10.1111/ajt.12926. - DOI - PMC - PubMed
    1. Bollee G, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency: Leave no stone unturned. World J Clin Urol. 2014;3:218–226. doi: 10.5410/wjcu.v3.i3.218. - DOI

LinkOut - more resources