Chapter·PediatricsGenetic disorders

Cystic fibrosisDownloads

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1

A 2720-g (6-lb) female newborn delivered at 35 weeks’ gestation starts vomiting and becomes inconsolable 48 hours after birth. The newborn has not passed her first stool yet. Examination shows abdominal distention and high-pitched bowel sounds. A water-soluble contrast enema study shows microcolon. Serum studies show increased levels of immunoreactive trypsinogen. Which of the following is the most likely additional laboratory finding?

AIncreased sodium concentration in sweat

BDecreased hydrogen ion concentration in renal collecting duct

CIncreased chloride concentration in alveolar fluid

DIncreased bicarbonate concentration in pancreatic secretions

EIncreased serum calcium concentration

2

A 14-year-old boy is brought to the physician by his parents for a follow-up examination. Since early childhood, he has had recurrent respiratory infections that cause him to miss several weeks of school each year. Last month, he had received treatment for his seventh episode of sinusitis this year. He has always had bulky, foul-smelling, oily stools that are now increasing in frequency. His parents are concerned that he is too thin and not gaining weight appropriately. He has a good appetite and eats a variety of foods. He is in the 10th percentile for height and the 5th percentile for weight. Examination of the nasal cavity shows multiple nasal polyps. The lung fields are clear upon auscultation. Further evaluation is most likely to show which of the following?

APositive methacholine challenge test

BHypersensitivity to aspirin

CSelective IgA deficiency

DAnti-tissue transglutaminase antibodies

EAbsent vas deferens

3

A 7-year-old girl is brought by her parents to her pediatrician's office for a persistent cough observed over the past month. She was diagnosed with cystic fibrosis 2 years ago and has been receiving chest physiotherapy regularly and the flu vaccine yearly. Her parents tell the pediatrician that their daughter has been coughing day and night for the past month, and produces thick, purulent, foul-smelling sputum. They are concerned because this is the first time such an episode has occurred. She has not had a fever, chills or any other flu-like symptoms. On examination, her blood pressure is 100/60 mm Hg, the pulse is 82/min, and the respiratory rate is 16/min. Breath sounds are reduced over the lower lung fields along with a presence of expiratory wheezing. Her sputum culture comes back positive for an aerobic, non-lactose fermenting, oxidase-positive, gram-negative bacillus. Which of the following prophylactic regimes should be considered after treating this patient for her current symptoms?

AOral trimethoprim-sulfamethoxazole

BOral amoxicillin/clavulanic acid

COral ciprofloxacin

DInhaled levofloxacin

EInhaled tobramycin

+ 7 more in the PDF

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