Congenital lobar emphysema in monozygotic twins
Zeni Scott1, Cynthia Zhou1, Elisabeth Tracy2
1Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.
Respiratory Medicine Case Reports
|April 20, 2023
Summary
Congenital lobar emphysema (CLE) has a genetic basis, as shown in identical twins. Early screening is crucial for affected families to detect and treat CLE proactively.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
Background:
- Congenital lobar emphysema (CLE) is a rare lung malformation characterized by air trapping and hyperinflation.
- While familial cases suggest a genetic component, the specific genetic factors in CLE remain poorly understood.
Observation:
- A case study involving monozygotic twins with Congenital lobar emphysema (CLE) is presented.
- One twin presented with respiratory distress due to right upper lobe (RUL) CLE and underwent lobectomy.
- His asymptomatic co-twin was screened, diagnosed with RUL CLE, and also underwent lobectomy.
Findings:
- This case highlights a potential genetic predisposition for Congenital lobar emphysema (CLE).
- The findings suggest that genetic factors play a significant role in the development of CLE.
Implications:
- The study underscores the importance of genetic counseling and screening for families with a history of CLE.
- Prophylactic screening in at-risk individuals, such as in familial or twin cases, may lead to earlier diagnosis and intervention.
- Early detection and treatment of CLE can potentially improve patient outcomes.
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