Research & Literature

[A Case Report of 2,8-Dihydroxyadenine Stone].

Yamaguchi S, Haba T, Koike H

Hinyokika kiyo. Acta urologica Japonica 2015; (61(7)):279-83.

Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.

Bollée G, Cochat P, Daudon M

Canadian journal of kidney health and disease 2015; (2()):31 doi:10.1186/s40697-015-0069-2.

Activation of AMP-Activated Protein Kinase by Adenine Alleviates TNF-Alpha-Induced Inflammation in Human Umbilical Vein Endothelial Cells.

Cheng YF, Young GH, Lin JT, et al.

PloS one 2015; (10(11)):e0142283 doi:10.1371/journal.pone.0142283.

Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.

Chong SL, Ng YH

World journal of pediatrics : WJP 2016; (12(2)):243-5 doi:10.1007/s12519-015-0073-8.

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Runolfsdottir HL, Palsson R, Agustsdottir IM, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2016; (67(3)):431-8.

2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.

George SA, Al-Rushaidan S, Francis I, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2017; (15(5)):574-577 doi:10.6002/ect.2015.0096.

Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, et al.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2016; (1036-1037()):170-177 doi:10.1016/j.jchromb.2016.09.018.

Genetic defects underlying renal stone disease.

Rumsby G

International journal of surgery (London, England) 2016; (36(Pt D)):590-595 doi:10.1016/j.ijsu.2016.11.015.

Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.

Jaffer A, Joyce A, Koenig P, Biyani CS

Journal of endourology case reports 2017; (3(1)):49-51 doi:10.1089/cren.2017.0015.

Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.

Nanmoku K, Kurosawa A, Shinzato T, et al.

Internal medicine (Tokyo, Japan) 2017; (56(11)):1387-1391 doi:10.2169/internalmedicine.56.8142.

Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.

Krishnappa P, Krishnamoorthy V, Gowda KK

Indian journal of urology : IJU : journal of the Urological Society of India 2017; (33(3)):246-248 doi:10.4103/iju.IJU_419_16.

Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.

Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, et al.

European journal of internal medicine 2018; (48()):75-79 doi:10.1016/j.ejim.2017.10.007.

Unusual cause of crystalline nephropathy.

Gopalakrishnan N, Rajasekar D, Dhanapriya J, et al.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2018; (29(2)):462-465 doi:10.4103/1319-2442.229280.

Long-term renal outcomes of APRT deficiency presenting in childhood.

Runolfsdottir HL, Palsson R, Agustsdottir IM, et al.

Pediatric nephrology (Berlin, Germany) 2019; (34(3)):435-442 doi:10.1007/s00467-018-4109-x.

A virtuous diagnostic and therapeutic roadmap triggered by a motivated and skilful urinary sediment examination.

Garigali G, Marra G, Rizzo V, et al.

Clinica chimica acta; international journal of clinical chemistry 2019; (492()):23-25 doi:10.1016/j.cca.2019.01.026.

Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.

Parikh MD, Konnur A, Gang S

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2019; (30(3)):723-725 doi:10.4103/1319-2442.261357.

Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.

Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, et al.

Molecular genetics and metabolism 2019; (128(1-2)):144-150 doi:10.1016/j.ymgme.2019.05.015.

How a purine salvage enzyme singles out the right base.

Nagappa LK, Balasubramanian S, Balaram H

The Journal of biological chemistry 2019; (294(32)):11992-11993 doi:10.1074/jbc.H119.010025.

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

Bagai S, Khullar D, Bansal B

BMC nephrology 2019; (20(1)):428 doi:10.1186/s12882-019-1616-3.

Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.

Runolfsdottir HL, Palsson R, Agustsdottir IMS, et al.

Transplantation 2020; (104(10)):2120-2128 doi:10.1097/TP.0000000000003088.

Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.

Klinkhammer BM, Djudjaj S, Kunter U, et al.

Journal of the American Society of Nephrology : JASN 2020; (31(4)):799-816 doi:10.1681/ASN.2019080827.

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

Runolfsdottir HL, Lin TL, Goldfarb DS, et al.

Urolithiasis 2020; (48(4)):337-344 doi:10.1007/s00240-020-01187-6.

Germ-Free Conditions Modulate Host Purine Metabolism, Exacerbating Adenine-Induced Kidney Damage.

Mishima E, Ichijo M, Kawabe T, et al.

Toxins 2020; (12(9)) doi:10.3390/toxins12090547.

Urinary Crystals with 2,8-Dihydroxyadeninuria.

Mizuno S

Internal medicine (Tokyo, Japan) 2021; (60(6)):963 doi:10.2169/internalmedicine.5939-20.

A rare cause of urolithiasis in an infant: Answers.

Koyun M, Sancaktar M, Aksoy GK, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(7)):2067-2068 doi:10.1007/s00467-020-04910-y.

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

Cheng Y, Guo L, Wang M, et al.

Internal medicine (Tokyo, Japan) 2021; (60(16)):2651-2657 doi:10.2169/internalmedicine.6640-20.

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL, Sayer JA, Indridason OS, et al.

European journal of human genetics : EJHG 2021; (29(7)):1061-1070 doi:10.1038/s41431-020-00805-6.

An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.

Nourié N, Nassereddine H, Azar H

Nephron 2021; (145(5)):503-507 doi:10.1159/000516281.

Recurrent DHA nephropathy in renal allograft-revisiting clinicopathological aspects of a rare entity.

Yesodharan J, Seethalekshmy NV, Nair RR

Indian journal of pathology & microbiology 2021; (64(3)):504-508 doi:10.4103/IJPM.IJPM_441_20.

[A Case Report of 2,8-Dihydroxyadenine Urolithiasis].

Miyachi S, Imamura T, Horiuchi E

Hinyokika kiyo. Acta urologica Japonica 2021; (67(9)):419-421 doi:10.14989/ActaUrolJap_67_9_419.

Current kidney function parameters overestimate kidney tissue repair in reversible experimental kidney disease.

Klinkhammer BM, Buchtler S, Djudjaj S, et al.

Kidney international 2022; (102(2)):307-320 doi:10.1016/j.kint.2022.02.039.

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

Rashid I, Verma A, Tiwari P, D'Cruz S

Jornal brasileiro de nefrologia 2022; (44(3)):403-416 doi:10.1590/2175-8239-JBN-2021-0283en.

A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment.

Kunou M, Yamaguchi M, Takahashi H, et al.

CEN case reports 2023; (12(3)):329-334 doi:10.1007/s13730-022-00768-1.

In vivo longitudinal 920 nm two-photon intravital kidney imaging of a dynamic 2,8-DHA crystal formation and tubular deterioration in the adenine-induced chronic kidney disease mouse model.

Choi J, Choi MS, Jeon J, et al.

Biomedical optics express 2023; (14(4)):1647-1658 doi:10.1364/BOE.485187.

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.

Leow EH, Chong SL, Tan ES, et al.

Nephrology (Carlton, Vic.) 2023; (28(12)):649-654 doi:10.1111/nep.14232.

2,8-Dihydroxyadenine nephrolithiasis with chronic kidney disease in children: A case report and review of literature.

Ramdhani R, Mustafa A, Siregar S, et al.

Urology case reports 2023; (51()):102623 doi:10.1016/j.eucr.2023.102623.

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

Leow EH, Ganesan I, Chong SL, et al.

International urology and nephrology 2025; (57(8)):2519-2529 doi:10.1007/s11255-025-04420-6.

2,8-dihyroxyadenine (DHA) crystalline nephropathy: A case report.

Rather JI, Fatima M, Wani MM, et al.

Clinical nephrology. Case studies 2025; (13()):37-40 doi:10.5414/CNCS111590.

Crystalline Nephropathy Due to 2,8-Dihydroxyadeninuria in a Transplanted Kidney: 2 Case Reports.

Raza HMA, Ibrahim A, Talwar M, et al.

The American journal of case reports 2025; (26()):e946972 doi:10.12659/AJCR.946972.

Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency.

Bramley R, Herrera D, Barski R, Henderson M

Annals of clinical biochemistry 2026; (63(2)):177-180 doi:10.1177/00045632251367232.

Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.

Edvardsson VO, Runolfsdottir HL, Palsson R

Pediatric nephrology (Berlin, Germany) 2026; doi:10.1007/s00467-026-07187-9.