Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice

Endocrinology. 2010 Apr;151(4):1829-36. doi: 10.1210/en.2009-0951. Epub 2010 Feb 24.

Abstract

The mechanisms underlying hypercalciuria in pseudohypoaldosteronism type II (PHAII) caused by WNK4 mutations remain unclear. In this study, we used Wnk4(D561A/+) knock-in mice as a model of human PHAII for investigating the pathogenesis of hypercalciuria in PHAII. Serum and urine biochemistries were obtained from Wnk4(+/+) and Wnk4(D561A/+) littermates. Expression of the epithelial Ca(2+) channels [transient receptor potential channel vanilloid subtype 5 (TRPV5) and TRPV6] and calbindin-D28k (CBP-D28k) in the distal nephron and two upstream Na(+) transporters, Na(+)/H(+) exchanger 3 and Na(+)-K(+)-2Cl(-) cotransporter 2 involved in paracellular Ca(2+) reabsorption, were examined by real-time PCR, immunofluorescent staining, and immunoblotting. Compared with Wnk4(+/+) littermate controls, Wnk4(D561A/+) mice manifested hypercalciuria despite no significant differences in serum creatinine, ionized Ca(2+), PTH, and 1,25 hydroxylvitamin D(3) levels. There was no significant difference in TRPV5 expression, but a significant increase in TRPV6 and CBP-D28k was observed in Wnk4(D561A/+) mice. Despite no significant change in Na(+)/H(+) exchanger 3 expression, Na(+)-K(+)-2Cl(-) cotransporter 2 expression was significantly attenuated and urine Ca(2+) excretion rate in response to furosemide was blunted in Wnk4(D561A/+) mice. Decreased Ca(2+) reabsorption in the upstream nephron, especially in the thick ascending loops of Henle, with a secondary adaptive increase in TRPV6 and CBP-D28k expression in the distal tubules might be involved in the hypercalciuria of PHAII.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Western
  • Calbindin 1
  • Calbindins
  • Calcifediol / blood
  • Calcium Channels / genetics
  • Calcium Channels / metabolism
  • Creatinine / blood
  • Fluorescent Antibody Technique
  • Hypercalciuria / etiology*
  • Hypercalciuria / genetics
  • Hypercalciuria / metabolism
  • Ion Transport / genetics
  • Mice
  • Mice, Transgenic
  • Nephrons / metabolism*
  • Parathyroid Hormone / blood
  • Protein Serine-Threonine Kinases / genetics*
  • Pseudohypoaldosteronism / complications*
  • Pseudohypoaldosteronism / genetics
  • Pseudohypoaldosteronism / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • S100 Calcium Binding Protein G / genetics
  • S100 Calcium Binding Protein G / metabolism
  • Sodium-Hydrogen Exchanger 3
  • Sodium-Hydrogen Exchangers / genetics
  • Sodium-Hydrogen Exchangers / metabolism
  • Sodium-Potassium-Chloride Symporters / genetics
  • Sodium-Potassium-Chloride Symporters / metabolism
  • Solute Carrier Family 12, Member 1
  • TRPV Cation Channels / genetics
  • TRPV Cation Channels / metabolism

Substances

  • CALB1 protein, human
  • Calb1 protein, mouse
  • Calbindin 1
  • Calbindins
  • Calcium Channels
  • Parathyroid Hormone
  • S100 Calcium Binding Protein G
  • SLC12A1 protein, human
  • Slc12a1 protein, mouse
  • Sodium-Hydrogen Exchanger 3
  • Sodium-Hydrogen Exchangers
  • Sodium-Potassium-Chloride Symporters
  • Solute Carrier Family 12, Member 1
  • TRPV Cation Channels
  • Trpv5 protein, mouse
  • Trpv6 protein, mouse
  • Creatinine
  • Prkwnk4 protein, mouse
  • Protein Serine-Threonine Kinases
  • Calcifediol