Symptom onset |
Before 5 years of life |
<2 years |
Newborn |
<3 years |
<2 years in classical forms |
CHD: <5 years Asthma: >5 years |
First year of life |
After the second year of life |
Adults >40 years |
Age of higher prevalence |
Childhood |
1–2 years |
First year of life |
Childhood and adolescence |
Up to 30 years |
CHD: <5 years Asthma: >5 years |
Childhood and adolescence |
Childhood and adolescence |
After 40 years |
Main clinical marker |
Family history of asthma, personal atopy and positive response to BD |
Infection by respiratory viruses (RSV and RV) |
Prematurity Oxygen use |
Virus |
Chronic colonization of the airways by Pseudomonas aeruginosa and pancreatic failure |
Elimination of bronchial casts with sputum |
Suppurative infections of the upper and lower airways |
Recurrent infections and chronic cough |
Smoking, emphysema, and biomass smoke |
Prevalence |
High (5–30%) |
High (15–60%) |
High; 26% in VLBW infants |
Low ? |
Low. Classified as rare disease. 1:2500–1:10,000 live births |
Low ? |
Low ? |
Low ? |
6–15.8% of the population older >40 years |
Bases for diagnosis |
Spirometry, positive response to BD, IgE, and skin prick test |
>3 episodes of wheezing in infancy and positive API |
Prematurity and oxygen therapy for more than 28 days in early life |
Lung biopsy, HRCT and lung perfusion scintigraphy |
NBS with a positive IRT, chloride >60 mEq/L in sweat, two mutations in the CFTR gene |
Airway cast expectoration and bronchoscopy |
Dextrocardia, chronic sinusitis, pneumonia and recurrent URTIs |
HRCT |
Smoking, emphysema and alpha1 antitrypsin deficiency |
Genotype |
Many chromosomes and polymorphisms |
Many chromosomes and polymorphisms |
Little known |
Little known |
Autosomal recessive with alterations in CFTR gene located on chromosome 7. 6 classes of mutations. Many polymorphisms |
Unknown |
Autosomal recessive |
Depends on the etiology |
– |
Phenotype |
Several |
Several |
M, Mo, S |
Constrictive proliferative |
Many. With and without pancreatic failure |
Depending on the etiology, the bronchial mold has a different composition |
With and without dextrocardia |
Depends on the etiology |
With and without asthma |
BAL |
Eosinophils |
Neutrophils and/or eosinophils |
Neutrophils |
Neutrophils |
Neutrophils |
Mucin and fibrin |
Neutrophils |
Neutrophils |
Neutrophils and macrophages |
Markers in lymphocytes |
High CD4/CD8 |
Varies whether the BAL is eosinophilic or neutrophilic |
? |
? |
? |
? |
? |
Depends on the etiology |
High CD8/CD4 |
Inflammatory mediators |
IL4, IL5, IL9, IL13, TNF-α, GM-CSF |
Varies whether the BAL is eosinophilic or neutrophilic |
TNF-α, IL-1, IL-6, IL-10 |
IL1β, IL6, IL8, TNF-α, and NFkβ |
IL8 |
? |
? |
Depends on the etiology |
IL8, LTB4, proteases, MMP9, TNF-α, TGF-β1 |
Main causes of PE |
Viruses and aero-allergens |
Viruses |
Viruses |
Viruses |
Gram-negative bacteria |
Influenza H1N1 ? |
Viruses and bacteria |
Bacteria and viruses |
Viruses and bacteria |
Response to BD |
Yes |
Little known |
Unknown |
Rare |
Rare |
? |
? |
No |
Low |
Obstruction |
Intermittent in the mild cases and fixed in severe cases |
Intermittent |
Fixed |
Fixed |
Fixed |
Intermittent |
Fixed |
Fixed |
Fixed |
Survival/ Mortality |
Long/low |
Long/low |
Depends on the severity and gestational age |
Depends on severity |
<40 years – class I–III mutations. >40 years – class IV–VI mutations |
Low/high |
<40 years |
Depends on the age of onset and etiology |
Depends on the severity. High mortality in the elderly |
Evolution to restrictive lung diseases |
Rare |
Rare |
Rare |
Frequent |
Frequent |
Rare |
Frequent |
Frequent |
Frequent |
Evolution to lung transplantation |
No |
No |
No |
Rare |
Yes |
No |
Yes |
Yes |
No |
Comorbidities |
Allergic rhinitis, atopic dermatitis and GERD |
GERD |
GERD and prematurity |
Severe adenovirus infection |
Pancreatic failure, depression, diabetes, and osteoporosis |
CHD, asthma, lymphatic disease, ABPA |
Azoospermia and chronic rhinosinusitis |
? |
Asthma and GERD |
Treatment |
IC; SABA; LABA; Montelukast; omalizumab |
IC; SABA; Montelukast |
IC; SABA; Sildenafil and PH Diuretics |
IC; SABA; LABA; corticoids; oxygen; tiotropium bromide |
Mucolytics; IA; digestive enzymes, IC; SABA; LABA; corticosteroids; tiotropium; Oxygen |
bronchoscopy; mucolytics and antifibrinolytics |
Mucolytics, IA; IC; SABA; LABA; corticosteroids and oxygen |
Mucolytics; IA IC; SABA; LABA; corticosteroids; oxygen; macrolides |
IC; SABA; LABA; corticosteroids; Tiotropium and oxygen |
Perspectives |
Early intervention in utero and early in life at risk populations. Prophylaxis against RSV and RV. Immunomodulation with prebiotics, probiotics and bacterial lysates. Prevention of allergic sensitization. |
Permissive hypercapnia and improved care to VLBW infants |
Palivizumab; genes and polymorphisms; respiratory virus vaccines |
Corrections by potentiators and carriers of CFTR protein and new tests for the diagnosis of atypical forms |
Multicenter studies, national registries |
Genetic studies and early diagnosis |
Prophylaxis against viruses |
Avoid smoking Asthma control |
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