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Respiratory Medicine Congenital Lung Disease

Congenital Lung Disease

Diagnosis and management of exocrine pancreatic insufficiency

Exocrine pancreatic insufficiency has various causes that differ with age, and diagnosis is challenging due to the lack of reliable diagnostic testing approaches. A high index of suspicion based on clinical history should inform testing.

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Editor's Choice

Optimizing nutrition in children with cystic fibrosis

Malnutrition is common in children with cystic fibrosis, and it contributes to both poor pulmonary and overall disease outcomes. But what are the challenges when trying to optimize nutrition?

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.

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.

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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

The evolving understanding of cystic fibrosis-related diabetes in the highly effective modulator therapy era: a scoping review

Cystic fibrosis-related diabetes (CFRD) is a unique form of diabetes that shares features with both type 1 and type 2 diabetes and is most often characterised by transient postprandial hyperglycaemia as a consequence of delayed first-phase insulin …

The efficacy of COVID-19 vaccination in cystic fibrosis patients: a systematic review

This systematic review evaluates the efficacy and safety of COVID-19 vaccines in individuals with cystic fibrosis (CF). A systematic search of major databases conducted between December 2019 and January 2024 identified eight cohort studies …

Panniculitis: a narrative review

Panniculitis is associated with a variety of disease processes that can be challenging to distinguish clinically. While diagnosis often relies on histopathology, sometimes this is not sufficiently diagnostic, which requires careful consideration …

Panniculitis Review for the Inpatient Dermatologist

Panniculitis, inflammation of the subcutaneous fat, represents a heterogenous group of diseases that can present clinical challenges for inpatient dermatologists [ 1 ]. Despite numerous forms of panniculitis with diverse etiologies, patients …

Further Reading

Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis

Cystic fibrosis (CF) is a chronic genetic disorder characterized by pancreatic insufficiency and lung disease. Advancements in highly effective modulator therapies (HEMTs) have improved life expectancy, shifting the focus to endocrine …

Dynamic changes in circulating microRNAs during oral glucose tolerance testing support their potential as diagnostic and monitoring biomarkers in cystic fibrosis-related diabetes

Cystic fibrosis-related diabetes (CFRD) is the most common comorbidity in individuals with cystic fibrosis (CF), affecting at least 50% of the adult CF population [ 1 ]. Acquiring CFRD is associated with a ~6-fold increase of morbidity and …

Chronic conditions and adolescents’ psychosocial wellbeing: the impact of self-reporting

This study explores psychosocial wellbeing in adolescents with a physician-diagnosed chronic condition, with emphasis on the disparity between adolescents who self-report their condition (reporters) and those who do not (non-reporters). We also …

Quantitative CT of emphysema, wall thickness and mucus plugs in alpha-1-antitrypsin deficiency: relationship to clinical outcomes

Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder leading to chronic obstructive pulmonary disease (COPD). Emphysema is the major structural damage visible on Computed tomography (CT) scans and is believed to occur primarily because …

Image Credits
Coloured scanning electron micrograph of fractured exocrine pancreas tissue/© Steve Gschmeissner/SCIENCE PHOTO LIBRARY/Getty Images, Family eating breakfast/© ReeseBuyout1 / peopleimages.com / stock.adobe.com (symbolic image with models), Chest CT of child with congenital lung malformation/© 2024, Asra Moradkhani et al, BMC Pulm Med, Doctor speaking with mother and her daughter/© Studio Romantic / Stock.adobe.com (symbolic image with models), Child receiving general anesthesia/© Aleksandr / Stock.adobe.com (symbolic image with models), Woman giving pill to young girl/© Sasha_Suzi / Getty Images / iStock (symbolic image with models), Woman taking pill/© fizkes / Getty images / iStock (symbolic image with model), Ciliated pseudostratified columnar epithelium/© JosLuis / Stock.adobe.com