HELIX syndrome in childhood. A claudinopathy with a salt-wasting tubulopathy phenotype with hypermagnesemia.

Abstract excerpt

The thick ascending limb of the loop of Henle (TAL) reabsorbs approximately 30% of filtered NaCl through two mechanisms: transepithelial and paracellular reabsorption. The latter is carried out through a class of tight junction proteins known as claudins. A mutation in the gene encoding claudin-10 causes a rare salt-wasting tubular disorder with hypokalemic metabolic alkalosis. However, unlike Bartter syndrome...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Arthrogryposis
• Share to Claudins
• Share to Genetic Diseases, X-Linked