Micheli Vanna, Massarino Fabio, Jacomelli Gabriella, Bertelli Matteo, Corradi Maria Rita, Guerrini Andrea, Cucchiara Antonino, Ravetti Jean Louis, Negretti Laura, Cannella Giuseppe
Dipartimento di Biologia Molecolare, Università di Siena, Via Fiorentina 1, Siena , Italy.
Divisione di Nefrologia, Dialisi e Trapianto, Azienda Ospedaliera Universitaria S. Martino, L.go R. Benzi 10, Genova , Italy.
NDT Plus. 2010 Oct;3(5):436-8. doi: 10.1093/ndtplus/sfq096. Epub 2010 Jun 2.
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.
腺嘌呤磷酸核糖转移酶（APRT）缺乏症是一种罕见的常染色体隐性遗传先天性代谢缺陷病，表现为2,8 - 二羟基腺嘌呤（2,8 - DHA）晶体肾病。我们描述了一名肾衰竭肾移植受者的临床、生化和分子学检查结果，该患者有2,8 - DHA结石且红细胞APRT活性检测不到。在APRT基因中发现外显子2剪接位点（IVS2 -3 c > g）处存在纯合的C > G替换。患者无症状的兄弟为该突变的杂合子，其APRT活性为对照的23%。导致基因转录错误且几乎没有APRT活性的剪接改变似乎与新发现的突变有关。
