Supriya K Jambhekar1, John L Carroll, Steven Keiles. 1. 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
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. Copyright 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
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. Copyright 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
Authors: S K Cordovado; M Hendrix; C N Greene; S Mochal; M C Earley; P M Farrell; M Kharrazi; W H Hannon; P W Mueller Journal: Mol Genet Metab Date: 2011-10-26 Impact factor: 4.797