CYSTIC FIBROSIS

Introduction
This is an autosomal recessive genetic disorder.
This genetic mutation affects the channel responsible for the transport of chloride and water.
This defect will lead to an excess of mucus in the lungs, pancreas, intestine, and reproductive tract. Patients are
usually screened at birth for this defect.
Signs and Symptoms
If screening was not done, common findings in a newborn include failure to pass meconium, failure to thrive, and
absence of the vas deferens.
The older patient will present with recurrent pulmonary infections, chronic productive cough, and pancreatic
dysfunction (foul smelling stools, oily stools, and frequent stools).
When the patient reaches adulthood, males will be infertile due a defect in sperm transport and absent vas
deferens.
Females have an increased risk of infertility because of an excess production in cervical mucus.
Diagnostic Testing
Diagnosis is made with a sweat chloride test with a value over 60 mmol/L.
A value under 30 (new borns) or 40 mmol/L (6 months and older) excludes the diagnosis.
A value between 30/40 and 60 requires the addition of DNA analysis to confirm the diagnosis.
Those with an intermediate result should also have the sweat chloride test repeated in 1-2 months.
Treatment
Chest physical therapy should be done either manually or with an oscillatory vest device. This will help clear the
airways.
Albuterol, mucolytics, DNase I, and inhaled hypertonic saline should be given to everyone. Albuterol should be
given prior to administration of the above therapies.
Those who have chronic airway inflammation should also be treated with daily azithromycin as it has both
antibacterial and anti-inflammatory benefits.
Pancreatic insufficiency is treated with enzyme replacement.
BRONCHIECTASIS
Introduction
The most common cause is Cystic fibrosis (mucoviscidosis): - Autosomal recessive disease - Involves lung, pancreas,
intestine - Pseudomonas most common organism causing infections
Permanent abnormal dilation of the bronchus (Irreversible bronchial dilation due to muscular and elastic tissue
destruction). This is usually due to repeated infections, most notably because of cystic fibrosis.
Signs and Symptoms
The patient will present with continued recurrent infections causing a chronic productive cough and hemoptysis. Crackles
will be auscultated on exam.
Diagnostic Testing
A chest X-ray will show tram lines (caused by bronchial wall thickening), but the diagnosis is made with CT scan
(bronchial wall thickening in dilated airways). Pulmonary function tests should also be done and will show an obstructive
pattern.
Treatment
Treatment involves improving secretion clearance, treating infections, replace pancreatic digestive enzymes.
Patients are treated with chest physiotherapy and given antibiotics for an acute exacerbation. The sputum should be
cultured with every infection. The patient will then be treated based on prior cultures and sensitivities. Inhaled antibiotics
are given to those at high risk for pseudomonas infection (risks include cystic fibrosis, repeated infection, and repeated
antibiotic use). Long term azithromycin has also been shown to have benefit in reducing exacerbations and improving
lung function. The next step in management if all the above fail, is a lung transplantation.

Ceftriaxone (Rocephin) has many attractive features as an antibiotic: it provides broad-spectrum coverage, it only
requires once-aday dosing due to its long half-life, and it can achieve nearly equal serum concentrations when
administered either IV or IM. However, Rocephin has two potentially serious side effects in neonates that mandates
thought and caution when prescribing it:
1. Ceftriaxone potently competes with bilirubin for albumin binding sites. By displacing bilirubin from albumin,
ceftriaxone increases serum free bilirubin which is lipid-soluble and readily crosses the blood brain barrier,
thereby increasing the risk of kernicterus at lower bilirubin levels than would otherwise be considered
dangerous.
2. Cases of fatal reactions with calcium-ceftriaxone precipitates in the lungs and kidneys in both term and
premature neonates have been reported. The drug must not be mixed or administered simultaneously with
calcium-containing solutions or products, even via different infusion lines. Additionally, calcium-containing
solutions or products must not be administered within 48-hours of the last administration of ceftriaxone.
Circumstances in which one may consider Rocephin in the NICU
1)
A single 50 mg/kg dose of Rocephin is the drug of choice to treat gonococcal ophthalmia neonatorum.
2)
IM Rocephin may be given to complete a day or two of an antibiotic course in an infant who has lost IV access.
HOWEVER, neonates may only receive Rocephin IF:
1. The baby is > 2 weeks of age AND anicteric OR, if the baby is < 2 weeks old
2. The baby is of term gestation AND the indirect bilirubin is < 8 AND the baby is Coombs with no signs of
hemolysis
3. The baby is not receiving calcium-containing products currently and will not receive them for 48 hours
after the dose of ceftriaxone.
If neither of these conditions are met, then substitute cefotaxime (Claforan) or another appropriate antibiotic or
combination of antibiotics.