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


CONCLUSIONS
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.
Jambhekar
Supriya K
SK
University of Arkansas for Medical Sciences and Arkansas Children's Hospital, 1 Children's Way, # 512-17, Little Rock, AR 72202, USA. jambhekarsupriya@uams.edu
Carroll
John L
JL
Keiles
Steven
S
D001741:Black or African American; D002648:Child; D003424:Crohn Disease / Q000150:complications / Q000235:genetics*; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000235:genetics*; D044465:White People
D019005:Cystic Fibrosis Transmembrane Conductance Regulator