Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
BMC Nephrology
Published in: BMC Nephrology 1/2019

Open Access 01-12-2019 | Xanthine Alkaloid | Case report

Rare crystalline nephropathy leading to acute graft dysfunction: a case report

Authors: Sahil Bagai, Dinesh Khullar, Bhavna Bansal

Published in: BMC Nephrology | Issue 1/2019

Login to get access

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.
Literature
1.
Simmonds HA, Sahota AS, Van Acker KJ. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 7th ed. New York, NY: McGraw-Hill; 1995. p. 2571–84.
2.
Bollée G, Harambat J, Bensman A, et al. CJASN September. 2012;7(9):1521–7.CrossRef
3.
Kaartinen K, Hemmilä U, Salmela K, Räisänen-Sokolowski A, Kouri T, Mäkelä S. Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. J Am Soc Nephrol. 2014;25(4):671–4.CrossRef
4.
Sreejith P, Narasimhan KL. Sakuja V. 2,8 Dihydroxyadenine urolithiasis: a case report and review of literature. Indian J Nephrol. 2009 Jan;19(1):34–6.CrossRef
5.
Krishnappa P, Krishnamoorthy V, Gowda KK. Dihydroxyadenine stone with adénine phosphoribosyltransferase deficiency: a case report. Indian J Urol. 2017;33:246–8.CrossRef
6.
Ceballos-Picot I, Saha A, Arora N, et al. Adenine Phosphoribosyltransferase deficiency due to novel mutation. Kidney Int Rep. 2018;4(4):624–8.CrossRef
7.
de Jong DJ, Assmann KJ, De Abreu RA, Monnens LA, van Liebergen FJ, Dijkman HB, Huysmans FT. 2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. J Urol. 1996;156:1754–5.CrossRef
8.
Gopalakrishnan N, Rajashekhar D, Dhanapriya J, Dinesh Kumar T, Sakthirajan R, Balasubramaniyan T, Murugesan V. Unusual cause of crystalline nephropathy. Saudi J Kidney Dis Transpl. 2018;29:462–5.CrossRef
9.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012;7:1521–7.CrossRef
10.
Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21:679–88.CrossRef
11.
Edvardsson V, Palsson R, Olafsson I, et al. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis. 2001;38:473–80.CrossRef
12.
Bertram A, Broecker V, Lehner F, Schwarz A. Kidney transplantation in a patient with severe adenine phosphoribosyl transferase deficiency: obstacles and pitfalls. Transpl Int. 2010;23:e56–8.PubMed
Metadata
Title
Rare crystalline nephropathy leading to acute graft dysfunction: a case report
Authors
Sahil Bagai
Dinesh Khullar
Bhavna Bansal
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2019
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-019-1616-3

Other articles of this Issue 1/2019

BMC Nephrology 1/2019 Go to the issue

Research article

The association of dialysis adequacy, body mass index, and mortality among hemodialysis patients

Research article

Acute kidney injury after liver resection in elderly patients

Research article

Differences in association of lower bone mineral density with higher coronary calcification in female and male end-stage renal disease patients

Case report

Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

Research article

Phenprocoumon based anticoagulation is an underestimated factor in the pathogenesis of calciphylaxis

Research article

Urinary angiostatin: a novel biomarker of kidney disease associated with disease severity and progression

ACC 2024 Congress Coverage

Heart Failure Video

Year in Review: Heart failure and cardiomyopathies

Watch now

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits