Pulmonology focuses on diagnosing and treating lung and airway conditions such as asthma, COPD, and pneumonia, as well as overall respiratory health.
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The diagnostic landscape of cystic fibrosis has been fundamentally altered by the implementation of universal newborn screening (NBS). In the United States, Europe, and many other regions, infants are screened shortly after birth. This proactive approach allows for the initiation of nutritional and respiratory therapies before clinical symptoms cause irreversible damage. The screening algorithm typically involves collecting a blood spot from the infant’s heel on a Guthrie card. The sample is analyzed for immunoreactive trypsinogen (IRT), a pancreatic enzyme precursor elevated in the blood of infants with pancreatic stress or obstruction. If the IRT level is elevated (in the top percentile), the sample undergoes secondary testing, usually DNA analysis for a panel of common CFTR mutations. A positive screen identifies infants at high risk but is not diagnostic; it requires confirmatory testing. At Liv Hospital, we guide families through this often anxiety-provoking process, ensuring rapid follow-up.
Despite advances in genetics, the quantitative pilocarpine iontophoresis sweat test remains the diagnostic gold standard. It provides a functional assessment of CFTR activity.
Genotyping is an essential component of the evaluation, not just for diagnosis but for treatment planning. Since CFTR modulators are mutation-specific, knowing the exact genotype is mandatory.
Once a diagnosis is established, monitoring lung function becomes routine care, typically starting at age 5 or 6, when children can reliably perform the maneuvers.
Regular surveillance of airway microbiology is critical. At every clinic visit (typically quarterly), respiratory cultures are obtained via sputum expectoration or oropharyngeal swabs (in non-expectorating children).
Imaging provides a structural assessment of disease progression.
In cases where patients are unable to produce sputum but clinical decline is evident, or to guide treatment for persistent infections, a flexible bronchoscopy with bronchoalveolar lavage (BAL) may be performed. This involves washing a segment of the lung with saline and collecting the fluid for culture, providing a “deep” sample of the lower airway microbiology.
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Yes, a positive newborn screen means the baby is at risk, but many babies with positive screens are only carriers or have false-positive results; the sweat test confirms the diagnosis.
Yes, the sweat test is the gold standard for all ages. However, diagnosing adults can sometimes be more complex if they have atypical symptoms or borderline sweat chloride levels.
A chest CT is much more sensitive than an X-ray; it can detect early damage, such as minor airway scarring or trapped mucus, that an X-ray misses, allowing for earlier treatment.
LCI is a sensitive breathing test that measures how evenly air flows through the lungs; it can detect early lung disease in children even when their standard spirometry results are expected.
Current guidelines recommend obtaining a respiratory culture at least 4 times a year (at every clinic visit) to monitor bacteria and treat new infections promptly.
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