Aminoacidurias: Clinical and molecular aspects

被引：31
作者：
Camargo, S. M. R. [1 ,2 ]
Bockenhauer, D. [3 ]
Kleta, R. [4 ]
机构：
[1] Univ Zurich, Inst Physiol, Zurich, Switzerland
[2] Univ Zurich, Ctr Integrat Human Physiol, Zurich, Switzerland
[3] Great Ormond St Hosp Sick Children, London Epithelial Grp, London WC1N 3JH, England
[4] UCL, Ctr Nephrol, London Epithelial Grp, London, England
来源：
KIDNEY INTERNATIONAL | 2008年 / 73卷 / 08期
关键词：
cystinuria; Hartnup disorder; lysinuric protein intolerance; iminoglycinuria; dicarboxylic aminoaciduria;
D O I：
10.1038/sj.ki.5002790
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small intestinal epithelia (absorption). Recently, many of the genes causing this abnormal transport have been molecularly identified. In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Signs, symptoms, diagnosis, treatment, causative or candidate genes, functional characterization of the encoded transporters, and animal models are discussed.
引用
收藏
页码：918 / 925
页数：8
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