Adenine phosphoribosyltransferase deficiency in children
Adenine phosphoribosyltransferase deficiency in children
复制标题
儿童腺嘌呤磷酸核糖转移酶缺乏症
DOI：
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Aprt Study Group
中科院分区：
文献类型：
--
作者：
J. Harambat;G. Bollée;M. Daudon;I. Ceballos;A. Bensman;Aprt Study Group
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疾病，其特征是 2,8-二羟基腺嘌呤 (2,8-DHA) 结晶尿，可导致肾结石和慢性肾脏病。我们研究的目的是评估大型儿科队列中 APRT 缺陷的临床表现、诊断和结果。对 1978 年至 2010 年间在同一法国参考实验室确认的所有 APRT 缺陷儿科病例进行了回顾性审查。已确定来自 18 个家庭的 21 名患者。诊断时的中位年龄为 3 岁。诊断是在一次或多次肾结石发作后（17 名患者）、尿路感染后（1 名患者）以及通过家庭筛查（3 名患者）做出的。诊断基于结石分析、尿液显微镜检查和/或红细胞 APRT 酶法测定。所有儿童的红细胞中 APRT 酶活性均为零。对 18 名患者进行了 APRT 基因测序，发现 6 种纯合突变和 12 种复合杂合突变。诊断时，一半患者肾功能下降，两名儿童出现急性肾功能衰竭。所有患者均接受别嘌呤醇治疗，中位剂量为 9 毫克/公斤/天。中位随访 5 年后，所有患者的肾功能均稳定或改善，生长发育正常，其中 6 名患者出现肾结石复发。基于这些结果，我们得出结论，接受适当治疗的 APRT 缺陷儿童可以获得良好的结果。
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease. The aim of our study was to assess the clinical presentation, diagnosis, and outcome of APRT deficiency in a large pediatric cohort. All pediatric cases of APRT deficiency confirmed at the same French reference laboratories between 1978 and 2010 were retrospectively reviewed. Twenty-one patients from 18 families were identified. The median age at diagnosis was 3 years. Diagnosis was made after one or more episodes of nephrolithiasis (17 patients), after urinary tract infection (1 patient), and by family screening (3 patients). The diagnosis was based on stone analysis and microscopic examination of urine and/or enzymatic determination of APRT on red blood cells. All children had null APRT enzyme activity in erythrocytes. APRT gene sequencing was performed on 18 patients, revealing six homozygous and 12 compound heterozygous mutations. At diagnosis, half of the patients had decreased kidney function, and two children presented with acute renal failure. Allopurinol treatment was given to all patients at a median dose of 9 mg/kg/day. After a median follow-up of 5 years, all patients showed stabilization or improvement of kidney function, normal growth and development, and six patients had recurrence of nephrolithiasis. Based on these results, we conclude that an excellent outcome can be achieved in children with APRT deficiency who receive the proper treatment.
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鉴定五名冰岛患者和一名英国患者的腺嘌呤磷酸核糖转移酶 (APRT) 基因中的单个错义突变。
影响因子：
9.8
作者：
Chen,J;Sahota,A;Laxdal,T;Scrine,M;Bowman,S;Cui,C;Stambrook,PJ;Tischfield,JA
通讯作者：
Tischfield,JA
DOI：
10.1073/pnas.93.11.5307
发表时间：
1996-05-28
影响因子：
11.1
作者：
Engle, SJ;Stockelman, MG;Tischfield, JA
通讯作者：
Tischfield, JA
2,8-二羟基腺嘌呤尿石症患者的细胞提取物中具有相当大的残留腺嘌呤磷酸核糖转移酶活性，但 APRT 的两个拷贝均存在突变。
DOI：
10.1006/mgme.2000.3142
发表时间：
2001
期刊：
Molecular genetics and metabolism.
影响因子：
--
作者：
Deng,L;Yang,M;Frund,S;Wessel,T;DeAbreu,RA;Tischfield,JA;Sahota,A
通讯作者：
Sahota,A
DOI：
10.1016/s0022-5347(17)48857-4
发表时间：
1984-06
期刊：
The Journal of pediatrics
影响因子：
--
作者：
G. Schwartz;L. Feld;Daniel J. Langford
通讯作者：
G. Schwartz;L. Feld;Daniel J. Langford
影响因子：
13.6
作者：
Schwartz, George J.;Munoz, Alvaro;Furth, Susan L.
通讯作者：
Furth, Susan L.