A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

doi:10.1016/s0022-3476(95)70310-1

Back to search

Article

A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

The Journal of pediatrics - 1 Aug 1995

Leoni G B, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli M C

Abstract excerpt

We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancrea...

Topics

Child
Child, Preschool
Chloride Channels
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Dehydration
Humans
Hyponatremia
Infant
Membrane Proteins
Mutation
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.