Journal of Cystic Fibrosis
Volume 9, Issue 4 , Pages 269-271, July 2010

Report of two patients with associated conditions in addition to cystic fibrosis☆

  • Supriya K. Jambhekar

      Affiliations

    • University of Arkansas for Medical Sciences and Arkansas Children's Hospital, 1 Children's Way, # 512-17, Little Rock, AR 72202, USA
    • Corresponding Author InformationCorresponding author. Pulmonary Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, # 512-17, Little Rock, AR 72202, USA. Tel.: +1 501 364 1006; fax: +1 501 364 3930.
    • ,
  • John L. Carroll

      Affiliations

    • University of Arkansas for Medical Sciences and Arkansas Children's Hospital, 1 Children's Way, # 512-17, Little Rock, AR 72202, USA
    • ,
  • Steven Keiles

      Affiliations

    • Ambry Genetics, 100 Columbia, # 200, Aliso Viejo, CA 92652, USA

Received 29 January 2010; received in revised form 21 April 2010; accepted 22 April 2010.

Abstract 

Purpose

To report two patients with associated conditions in addition to cystic fibrosis.

Methods

We reviewed our database and report two patients with cystic fibrosis who had associated conditions. These patients also had novel disease causing CFTR mutations on full gene sequence analysis.

Results

We identified 2 patients with novel disease causing cystic fibrosis transmembrane conductance regulator mutations that we report here. A 12-year-old female with cystic fibrosis, diagnosed at 18months, had normal pulmonary function tests and chest X-ray. Her main cystic fibrosis-related health issue was poor growth. Results of cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; L467P; and 7T/9T. She was later diagnosed with Crohn's disease. An 11-year-old male with Rubinstein–Taybi syndrome, diagnosed with cystic fibrosis at 2years of age, had minimal findings on chest X-ray and pancreatic insufficiency. Results of his cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; 4329delCT; and 7T/9T.

Conclusion

We report 2 patients with CF who had associated conditions and also had novel disease causing CFTR mutations. Associated conditions may worsen the clinical manifestations of CF and complicate medical management.

Keywords: Cystic fibrosis, Mutation, Genetics, Gene sequence analysis, Cystic fibrosis transmembrane conductance regulator, Associated conditions, Crohn's disease, Rubinstein–Taybi syndrome

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☆ Disclosure statement: Co-author Steven Keiles is Vice President, Director of Genetic Services for Ambry Genetics in Aliso Viejo, California, USA.

PII: S1569-1993(10)00064-0

doi:10.1016/j.jcf.2010.04.007

Journal of Cystic Fibrosis
Volume 9, Issue 4 , Pages 269-271, July 2010

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