title: Normal volume of distribution of tobramycin in a mother and daughter with a CFTR splice mutation (1717 - 1G --> A).
abstract: A mother and daughter pair with CF who shared a splice mutation (1717 - 1G --> A) had a normal volume of distribution of tobramycin. The literature on tobramycin pharmacokinetics, which was published before the genetic defect was identified, is discussed. The authors speculate on the role of CFTR in the distribution of aminoglycosides and recommend that CFTR mutations should be clarified in all future studies of tobramycin pharmacokinetics in patients with CF.
authors.affiliation: Department of Pediatrics, Children's Hospital of Buffalo, State University of New York, 219 Bryant Street, Buffalo, NY 14222, USA.
authors.forename: Dawn
authors.initials: D
authors.lastname: Simon
authors.forename: Michael
authors.initials: M
authors.lastname: Cimino
authors.forename: Drucy
authors.initials: D
authors.lastname: Borowitz
mesh_terms: D000328:Adult; D000900:Anti-Bacterial Agents / Q000493:pharmacokinetics*; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics / Q000378:metabolism*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D010446:Peptide Fragments / Q000235:genetics*; D014031:Tobramycin / Q000493:pharmacokinetics*
chemical_list: D000900:Anti-Bacterial Agents; C505032:CFTR protein, human; D010446:Peptide Fragments; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C074197:cystic fibrosis transmembrane conductance regulator (505-511); D014031:Tobramycin