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

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 PRESENTATI...

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Autores principales: Bagai, Sahil, Khullar, Dinesh, Bansal, Bhavna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873418/
https://www.ncbi.nlm.nih.gov/pubmed/31752739
http://dx.doi.org/10.1186/s12882-019-1616-3
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author Bagai, Sahil
Khullar, Dinesh
Bansal, Bhavna
author_facet Bagai, Sahil
Khullar, Dinesh
Bansal, Bhavna
author_sort Bagai, Sahil
collection PubMed
description 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.
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spelling pubmed-68734182019-12-12 Rare crystalline nephropathy leading to acute graft dysfunction: a case report Bagai, Sahil Khullar, Dinesh Bansal, Bhavna BMC Nephrol Case Report 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. BioMed Central 2019-11-21 /pmc/articles/PMC6873418/ /pubmed/31752739 http://dx.doi.org/10.1186/s12882-019-1616-3 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Bagai, Sahil
Khullar, Dinesh
Bansal, Bhavna
Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title_full Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title_fullStr Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title_full_unstemmed Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title_short Rare crystalline nephropathy leading to acute graft dysfunction: a case report
title_sort rare crystalline nephropathy leading to acute graft dysfunction: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873418/
https://www.ncbi.nlm.nih.gov/pubmed/31752739
http://dx.doi.org/10.1186/s12882-019-1616-3
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AT khullardinesh rarecrystallinenephropathyleadingtoacutegraftdysfunctionacasereport
AT bansalbhavna rarecrystallinenephropathyleadingtoacutegraftdysfunctionacasereport

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