Distal Renal Tubular Acidosis and Calcium Nephrolithiasis

被引：0
作者：
Moe, Orson W. [1 ,2 ,3 ]
Fuster, Daniel G. [1 ,2 ]
Xie, Xiao-Song [4 ]
机构：
[1] Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Div Nephrol, Dallas, TX 75380 USA
[2] Univ Texas Southwestern Med Ctr Dallas, Dept Physiol, Dallas, TX 75380 USA
[3] Charles & Jane Pak Ctr Mineral Metabolism & Clin, Dallas, TX 75380 USA
[4] McDermot Ctr Human Growth & Dev, Dallas, TX 75380 USA
来源：
RENAL STONE DISEASE 2 | 2008年 / 1049卷
基金：
美国国家卫生研究院;
关键词：
membrane transport; proton ATPase; anion exchanger; carbonic anhydrase;
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Calcium stones are commonly encountered in patients with congenital distal renal tubular acidosis, a disease of renal acidification caused by mutations in either the vacuolar H+-ATPase (B1 or a4 subunit), anion exchanger-1, or carbonic anhydrase II. Based on the existing database, we present two hypotheses. First, heterozygotes with mutations in B1 subunit of H+-ATPase are not normal but may harbor biochemical abnormalities such as renal acidification defects, hypercalciuria, and hypocitraturia which can predispose them to kidney stone formation. Second, we propose at least two mechanisms by which mutant B1 subunit can impair H+-ATPase: defective pump assembly and defective pump activity.
引用
收藏
页码：81 / +
页数：6
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