Distal renal tubular acidosis and calcium nephrolithiasis

Orson W. Moe, Daniel G. Fuster, Xiao Song Xie

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

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 Bl 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.

Original languageEnglish (US)
Title of host publicationRenal Stone Disease 2 - 2nd International Urolithiasis Research Symposium
Pages81-97
Number of pages17
DOIs
StatePublished - 2008
Event2nd International Urolithiasis Research Symposium - Indianapolis, IN, United States
Duration: Apr 17 2008Apr 18 2008

Publication series

NameAIP Conference Proceedings
Volume1049
ISSN (Print)0094-243X
ISSN (Electronic)1551-7616

Other

Other2nd International Urolithiasis Research Symposium
Country/TerritoryUnited States
CityIndianapolis, IN
Period4/17/084/18/08

Keywords

  • Anion exchanger
  • Carbonic anhydrase
  • Membrane transport
  • Proton ATPase

ASJC Scopus subject areas

  • General Physics and Astronomy

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