TY - JOUR
T1 - Decreased kidney function and crystal deposition in the tubules after kidney transplant
AU - Stratta, Piero
AU - Fogazzi, Giovanni Battista
AU - Canavese, Caterina
AU - Airoldi, Andrea
AU - Fenoglio, Roberta
AU - Bozzola, Cristina
AU - Ceballos-Picot, Irne
AU - Bollée, Guillaume
AU - Daudon, Michel
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Adenine phosphoribosyltransferase (APRT) deficiency
KW - crystal nephropathy
KW - crystalluria
KW - renal biopsy
KW - renal transplant
KW - urinary sediment
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UR - http://www.scopus.com/inward/citedby.url?scp=77956210667&partnerID=8YFLogxK
U2 - 10.1053/j.ajkd.2009.12.028
DO - 10.1053/j.ajkd.2009.12.028
M3 - Article
C2 - 20303634
AN - SCOPUS:77956210667
VL - 56
SP - 585
EP - 590
JO - American Journal of Kidney Diseases
JF - American Journal of Kidney Diseases
SN - 0272-6386
IS - 3
ER -