» Articles » PMID: 31752739

Rare Crystalline Nephropathy Leading to Acute Graft Dysfunction: a Case Report

Overview
Journal BMC Nephrol
Publisher Biomed Central
Specialty Nephrology
Date 2019 Nov 23
PMID 31752739
Citations 3
Authors
Affiliations
Soon will be listed here.
Abstract

Background: Adenine phosphoribosyl transferase (APRT) deficiency is a rare genetic form of kidney stones and/or kidney failure characterized by intratubular precipitation of 2,8 dihydroxyadenine crystals. Early diagnosis and prompt management can completely reverse the kidney injury.

Case Presentation: 44 year old Indian male, renal transplant recipient got admitted with acute graft dysfunction. Graft biopsy showed light brown refractile intratubular crystals with surrounding giant cell reaction, consistent with APRT deficiency. Patient improved after receiving allopurinol and hydration.

Conclusion: APRT forms a reversible cause of crystalline nephropathy. High index of suspicion is required for the correct diagnosis as timely diagnosis has therapeutic implications.

Citing Articles

Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.

Leow E, Ganesan I, Chong S, Yap C, Chao S, Wang F Int Urol Nephrol. 2025; .

PMID: 39982660 DOI: 10.1007/s11255-025-04420-6.


Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.

Rashid I, Verma A, Tiwari P, DCruz S J Bras Nefrol. 2022; 44(3):403-416.

PMID: 35635787 PMC: 9518620. DOI: 10.1590/2175-8239-JBN-2021-0283en.


Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.

Cheng Y, Guo L, Wang M, Chen J, Wang R Intern Med. 2021; 60(16):2651-2657.

PMID: 33678741 PMC: 8429296. DOI: 10.2169/internalmedicine.6640-20.


Calcium oxalate crystal deposition in the kidney: identification, causes and consequences.

Geraghty R, Wood K, Sayer J Urolithiasis. 2020; 48(5):377-384.

PMID: 32719990 PMC: 7496019. DOI: 10.1007/s00240-020-01202-w.

References
1.
Kaartinen K, Hemmila U, Salmela K, Raisanen-Sokolowski A, Kouri T, Makela S . Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. J Am Soc Nephrol. 2014; 25(4):671-4. PMC: 3968508. DOI: 10.1681/ASN.2013090960. View

2.
Gopalakrishnan N, Rajasekar D, Dhanapriya J, Dineshkumar T, Sakthirajan R, Balasubramaniyan T . Unusual cause of crystalline nephropathy. Saudi J Kidney Dis Transpl. 2018; 29(2):462-465. DOI: 10.4103/1319-2442.229280. View

3.
de Jong D, Assmann K, De Abreu R, Monnens L, van Liebergen F, Dijkman H . 2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. J Urol. 1996; 156(5):1754-5. DOI: 10.1097/00005392-199611000-00057. View

4.
Sreejith P, Narasimhan K, Sakhuja V . 2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature. Indian J Nephrol. 2010; 19(1):34-6. PMC: 2845193. DOI: 10.4103/0971-4065.50680. View

5.
Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T . Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis. 2001; 38(3):473-80. DOI: 10.1053/ajkd.2001.26826. View