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Clinical correlation #

Cystic Fibrosis
Goals of this session:
ƒ To review the pathophysiology of Cystic Fibrosis ƒ To review the relevant physical findings of CF ƒ To place the pathophysiology of CF into a clinical context through a case presentation Pathophysiology review:
Mutation in CFTR transmembrane receptor (on chromosome 7) ATP Binding Cassette protein that acts as regulated chloride channel Phenotypic expression of disease varies widely, dependent on type of mutation Physical and chemical abnormalities in bodily secretions, especially mucus Respiratory secretions cause chronic infections by P. aeruginosa (now also B. cepacia) ƒ persistent, productive cough, hyperinflation of the lungs on CXR, and PFTs consistent ƒ As the disease progresses, patients develop chronic bronchitis +/- bronchiectasis ƒ Pancreatic insufficiency +/- Failure to Thrive ƒ panopacification of the paranasal sinuses +/- Nasal Polyps ƒ Meconium Ileus +/- Small Bowel Obstruction ƒ Focal Biliary Cirrhosis +/- Cholelithiasis ƒ Sperm transport defects OR Secondary amenorrhea CC: cough, dyspnea, and poor weight gain
HPI: 15 ½ year old girl with CF, dx’d in infancy, p/w pulmonary exacerbation. Briefly, she was born with
meconium ileus, which led to the diagnosis of CF. She had a colostomy as an infant with closure during the first
year of life. She was then relatively stable for a number of years with minimal symptoms.
Over the past year, she has had increasing respiratory sxs, with increased frequency of hospitalizations and poor
weight gain. In 4/04, she was admitted for a gastrostomy tube and IV antibiotics. She was again admitted in 10/04.
In general, she improves on IV antibiotics but quickly deteriorates subsequently to ceasing the medications. During
her most recent admission in 11/04 for a pulmonary exacerbation she was treated with IV Tobramycin and
Ceftazidime for Pseudomonas positive sputum cxs and she was placed on an increased calorie diet with minimal
subsequent weight gain.
Since discharge, she has continued to have a daily cough and dyspnea. She has missed over half of her school
year. Her sputum is green, though she has transient hemoptysis. She has intermittent sinusitis.
PMH: as above
Medications: Pancrease, Xopenex, Hypertonic Saline, Pulmozyme, Zyrtec, MVI, Peptamin through Gtube,
Calcium, Prednisone, Zithromax, Prevacid, Flonase, Flovent, Singulair, Mephytoin, Albuterol
ROS: hx sinusitis; poor PFTs in past; malnutrition related to CF; occasional elev. Gluc.; nonmenstruating;
PE: Ht 154 cm; Wt 33kg; Tafebrile; BP not recorded; P 125; RR20; O2sat 92% RA
Gen: very thin girl, alert, NAD
HEENT: nasal turbinates boggy
CV: regular rate and rhythm, S1, S2, no murmurs noted
Lungs: nl AP diameter, no incr’d resp effort, fair air entry b/l; decreased air entry at LLL; scattered crackles b/l
Abd: soft, nontender, nondistended, no hepatosplenomegaly
Ext:+clubbing bilaterally
Sputum Cx: Pseudomonas sensitive to Zosyn, Gentamycin, Amikacin, & Imipinem

Source: http://www.hospitalist.cumc.columbia.edu/downloads/cc4_articles/Practical%20Matters/Clinical%20correlation%20CF.pdf

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Ordenanza n 5 - 201

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