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NDT Plus. 2010 Oct;3(5):436-8. doi: 10.1093/ndtplus/sfq096. Epub 2010 Jun 2.

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

Author information

1
Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
2
Divisione di Nefrologia, Dialisi e Trapianto, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.
3
International Association of Medical Genetics (MAGI-onlus), Via delle Grazie 3, Rovereto (TN) , Italy.
4
Dip. Te. Ris., Università di Genova, V.le BenedettoXV 5, Genova , Italy.
5
Div. di Anatomia Patologica, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency, a rare inborn error inherited as an autosomic recessive trait, presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy. We describe clinical, biochemical and molecular findings in a renal transplant recipient with renal failure, 2,8-DHA stones and no measurable erythrocyte APRT activity. Homozygous C > G substitution at -3 in the splicing site of exon 2 (IVS2 -3 c > g) was found in the APRT gene. The patient's asymptomatic brother was heterozygous for such mutation, and his APRT activity was 23% of controls. A splicing alteration leading to incorrect gene transcription and virtually absent APRT activity is seemingly associated with the newly identified mutation.

KEYWORDS:

APRT deficiency; gene mutation; nephrolithiasis; renal transplantation

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