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Respiratory Medicine Congenital Lung Disease

Congenital Lung Disease

Rare combination of congenital lung anomalies

A 3-year-old with respiratory problems since birth was found to have multiple congenital anomalies affecting the airway including a posterior laryngeal cleft, a tracheal bronchus, and a very narrow distal trachea.

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Editor's Choice

CFTR modulator use could be expanded

Many people with cystic fibrosis who do not have genetic variants approved for treatment still respond to treatment with elexacaftor–tezacaftor–ivacaftor.

Reassurance on early anesthesia exposure in children with CF

Children with cystic fibrosis who receive therapy requiring general anesthesia before the age of 2 years do not have impaired neurodevelopment in later childhood.

Early initiation of ivacaftor improves cystic fibrosis outcomes

Initiating ivacaftor for cystic fibrosis as early as age 6 years helps to preserve lung function and reduces pulmonary exacerbations.

Bronchial dilatation reversal in CF possible with treatment but in only a few

Treatment with elexacaftor–tezacaftor–ivacaftor reverses cylindrical bronchial dilatations in just 5% of adults with cystic fibrosis.

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Case Studies

Rare combination of congenital lung anomalies

A 3-year-old with respiratory problems since birth was found to have multiple congenital anomalies affecting the airway including a posterior laryngeal cleft, a tracheal bronchus, and a very narrow distal trachea.

Current Reviews

Discrimination against adolescents with chronic diseases: a systematic review

Discrimination is a social construct that discredits individuals based on attributes deemed socially undesirable. Adolescence is a period of transition where individuals acquire skills, values, and experiences that prepare them for adulthood.

Antibiotic treatment of bacterial lung infections in cystic fibrosis

For this review, a Medline search of English-language literature was performed. The European CF Society’s Standards of care, systematic reviews, guidelines regarding antibiotic treatment in CF and clinical trials considered relevant based on the …

Symptoms, burden, and unmet needs of patients living with exocrine pancreatic insufficiency: a narrative review of the patient experience

Exocrine pancreatic insufficiency (EPI) stems from a deficiency of functional pancreatic enzymes with consequent maldigestion and malnutrition. EPI shares clinical symptoms and manifestations with other disorders and is a considerable burden to …

Clinical features and outcomes of persons with cystic fibrosis and nocardia isolation: a systematic review

Cystic fibrosis (CF) is a common autosomal recessive disorder resulting from variants in the CF transmembrane conductance regulator ( CFTR ) gene. Multiple systems are affected, however, respiratory tract infections are one leading cause of …

Further Reading

Risk factors for survival after lung transplantation in cystic fibrosis: impact of colonization with multidrug-resistant strains of Pseudomonas aeruginosa

Approximately 8.000 individuals are currently affected by cystic fibrosis (CF) in Germany, while at least 100,000 people worldwide live with this condition [ 31 ]. The median age at death is 37 years; however, the median projected life expectancy …

Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation

  • Open Access
  • Acidosis
  • Clinical Insights

Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also …

Antibiotic treatment of bacterial lung infections in cystic fibrosis

For this review, a Medline search of English-language literature was performed. The European CF Society’s Standards of care, systematic reviews, guidelines regarding antibiotic treatment in CF and clinical trials considered relevant based on the …

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

Although cystic fibrosis (CF) is a disease with a monogenic cause, significant variability is observed among patients’ phenotypes due to factors such as the variety of variants in the gene encoding the Cystic Fibrosis Transmembrane Conductance …