A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl

BMJ Case Rep. 2012 Nov 9:2012:bcr2012006918. doi: 10.1136/bcr-2012-006918.

Abstract

We report the case of a 12-year-old girl with an allergic bronchopulmonary aspergillosis (ABPA), intermediate sweat chloride tests and one cystic fibrosis (CF)-causing mutation, p.Phe508del. After extensive screening of the CF transmembrane regulator (CFTR) gene, she finally was found to carry a rare deep intronic mutation (c.872-1110_1113delGAAT), which confirmed the atypical mild CF disease. Although a classical steroid treatment did not allow the healing of the ABPA, an omalizumab therapy led to a long-term recovery. This case emphasises the need to search for rare CFTR gene mutations as far as possible when a CF disease is evocated. Moreover, it also highlights that although omalizumab is not yet recognised as a classical ABPA treatment in CF, it should be considered as an alternative therapy in steroid-resistant patients.

Publication types

  • Case Reports

MeSH terms

  • Anti-Allergic Agents / therapeutic use
  • Antibodies, Anti-Idiotypic / therapeutic use
  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Aspergillosis, Allergic Bronchopulmonary / diagnosis
  • Aspergillosis, Allergic Bronchopulmonary / drug therapy
  • Aspergillosis, Allergic Bronchopulmonary / etiology
  • Aspergillosis, Allergic Bronchopulmonary / genetics*
  • Child
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Drug Resistance
  • Female
  • Genetic Testing
  • Humans
  • Introns*
  • Mutation*
  • Omalizumab
  • Phenotype*
  • Severity of Illness Index*
  • Steroids / therapeutic use

Substances

  • Anti-Allergic Agents
  • Antibodies, Anti-Idiotypic
  • Antibodies, Monoclonal, Humanized
  • CFTR protein, human
  • Steroids
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Omalizumab