Genetics of pediatric interstitial lung disease
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1Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. lnogee@jhmi.edu
Insights
Genetic mutations in SFTPC and ABCA3 cause rare pediatric interstitial lung diseases. Identifying these genetic causes aids diagnosis, family counseling, and developing new treatments for childhood lung disorders.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
- Rare Diseases
Background:
- Interstitial lung diseases (ILDs) in children are rare and often of unknown cause.
- Familial cases and early infant onset suggest a genetic component in pediatric ILDs.
Purpose of the Study:
- To review the genetic basis of pediatric interstitial lung diseases.
- To highlight the role of specific gene mutations in disease etiology and inheritance patterns.
Main Methods:
- Review of current literature on genetic mutations associated with pediatric ILDs.
- Analysis of inheritance patterns (autosomal-dominant and autosomal-recessive) linked to identified genes.
Main Results:
- Mutations in SFTPC (surfactant protein C) are linked to autosomal-dominant ILDs.
- Mutations in ABCA3 are associated with autosomal-recessive ILDs.
- Clinical and histopathologic features show overlap between these genetic forms.
Conclusions:
- Gene identification enables noninvasive diagnosis and accurate classification of pediatric ILDs.
- Genetic insights facilitate family risk assessment and counseling.
- Understanding the pathophysiology may lead to novel therapeutic strategies for pediatric lung diseases.
Purpose Of Review:
The interstitial lung diseases are a heterogeneous group of rare disorders of largely unknown etiology. The occurrence of familial cases of pediatric interstitial lung diseases with the onset of symptoms developing early in infancy has suggested a genetic basis for some forms of interstitial lung diseases in children.
Recent Findings:
Mutations in the genes encoding surfactant protein C, SFTPC, and a member of the adenosine triphosphate-binding cassette family of proteins, ABCA3, have been shown to result in pediatric interstitial lung diseases inherited in autosomal-dominant and autosomal-recessive patterns, respectively. There is overlap in both the clinical and histopathologic features of these disorders.
Summary:
Identification of genes responsible for pediatric interstitial lung diseases provides the opportunity for noninvasive testing to establish an etiologic diagnosis, to counsel family members for their recurrence risk, and to classify these rare disorders more accurately. A better understanding of the cause and pathophysiology of these disorders may provide additional insights into the causes of other forms of pediatric interstitial lung diseases, and may suggest novel treatment approaches.
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