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

Abstract

BackgroundAdenine 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 presentation44 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.ConclusionAPRT forms a reversible cause of crystalline nephropathy. High index of suspicion is required for the correct diagnosis as timely diagnosis has therapeutic implications.

A deficiência de adenina fosforibosiltransferase leva à disfunção do aloenxerto renal em receptores de transplante renal: uma revisão sistemática

“…A triagem final com base no texto na íntegra envolveu os 33 artigos restantes, dos quais 13 foram excluídos devido a desfechos indesejados, dados incompletos e duplicação. Os 20 estudos contendo 30 amostras foram considerados para revisão final e análise qualitativa 1,2,7,8,[11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] . A visão geral detalhada de todos os 20 estudos elegíveis é fornecida como Arquivo Suplementar.…”

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

“…The final screening based on full text involved the remaining 33 articles, of which 13 articles were excluded due to unwanted outcomes, incomplete data, and duplication. The 20 studies containing 30 samples were considered for final review and qualitative analysis 1,2,7,8,[11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] . The detailed overview of all the 20 eligible studies is provided as Supplementary file.…”

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

“…There are reports of patients with APRT deficiency undergoing living related kidney transplantations (Supplementary Tables 1 and 2). 18–54 Therefore, clinical screening or genetic testing of relatives of potential living related kidney donors should be considered.…”