Genetic disorders of NaCl transport in the distal convoluted tubule

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The distal convoluted tubule (DCT) reabsorbs 5-10% of filtered Na, and is an important site for regulation of Na balance. Additionally, the amount and composition of the tubular fluid that leaves the DCT affects H and K secretion in more distal nephrin segments. Mutations in five genes whose products are expressed in the DCT demonstrate these points and help to define the mechanisms by which the DCT contributes to control of electrolyte balance and volume. Loss of function mutations in the apical thiazide-sensitive NaCl cotransporter and the basolateral K channel Kir4.1, and activating mutations in the Ca-sensing receptor cause a phenotypically similar salt wasting syndrome. Mutation in two recently identified kinases, WNK1 and WNK4 cause a salt-retaining syndrome through increased apical expression of NaCl cotransporter. Recent studies indicate that these genes are important not only for understanding the physiology of the distal nephron, but that they and others may also contribute to blood pressure variation in the general population.

Original languageEnglish (US)
JournalNephron - Physiology
Volume118
Issue number1
DOIs
StatePublished - Nov 2010

Fingerprint

Inborn Genetic Diseases
Mutation
Salts
Wasting Syndrome
Calcium-Sensing Receptors
Water-Electrolyte Balance
Nephrons
Genes
Phosphotransferases
Blood Pressure
Population

Keywords

  • Basolateral K channel Kir4.1
  • Ca-sensing receptor
  • NaCl cotransporter
  • WNK kinases

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)

Cite this

Genetic disorders of NaCl transport in the distal convoluted tubule. / Miller, R. Tyler.

In: Nephron - Physiology, Vol. 118, No. 1, 11.2010.

Research output: Contribution to journalArticle

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