Decreased kidney function and crystal deposition in the tubules after kidney transplant

Piero Stratta, Giovanni Battista Fogazzi, Caterina Canavese, Andrea Airoldi, Roberta Fenoglio, Cristina Bozzola, Irne Ceballos-Picot, Guillaume Bollée, Michel Daudon

Research output: Contribution to journalArticlepeer-review

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive purine enzyme defect that results in the inability to utilize adenine, which consequently is oxidized by xanthine dehydrogenase to 2,8-dihydroxyadenine (2,8-DHA), an extremely insoluble substance eventually leading to crystalluria, nephrolithiasis, and kidney injury. We describe a case of APRT deficiency not diagnosed until the evaluation of a poorly functioning kidney transplant in a 67-year-old white woman. After the transplant, there was delayed transplant function, urine specimens showed crystals with unusual appearance, and the transplant biopsy specimen showed intratubular obstruction by crystals identified as 2,8-DHA using infrared spectroscopy. APRT enzymatic activity was undetectable in red blood cell lysates, and analysis of the APRT gene showed 1 heterozygous sequence variant, a duplication of T at position 1832. The patient was treated with allopurinol, 300 mg/d, and transplant function progressively normalized. Because patients with undiagnosed APRT deficiency who undergo kidney transplant may risk losing the transplant because of an otherwise treatable disease, increased physician awareness may hasten the diagnosis and limit the morbidity associated with this disease.

Original languageEnglish
Pages (from-to)585-590
Number of pages6
JournalAmerican Journal of Kidney Diseases
Volume56
Issue number3
DOIs
Publication statusPublished - 2010

Keywords

  • Adenine phosphoribosyltransferase (APRT) deficiency
  • crystal nephropathy
  • crystalluria
  • renal biopsy
  • renal transplant
  • urinary sediment

ASJC Scopus subject areas

  • Nephrology
  • Medicine(all)

Fingerprint

Dive into the research topics of 'Decreased kidney function and crystal deposition in the tubules after kidney transplant'. Together they form a unique fingerprint.

Cite this