[Siblings with familial interstitial pneumonia].

Area of Science:

• Pulmonology
• Genetics
• Family Medicine

Background:

• Idiopathic interstitial pneumonia (IIP) can have familial predispositions.
• Early-onset IIP suggests a potential genetic component.
• Smoking is a known risk factor for lung diseases.

Observation:

• A 71-year-old man with IIP presented with cough and dyspnea, later succumbing to the disease.
• His family history revealed a high prevalence of IIP, affecting siblings and offspring.
• Affected family members showed earlier age of diagnosis in younger generations and distinct CT imaging findings.

Findings:

• Chest CT in the proband generation showed subpleural traction bronchiectasis and honeycombing.
• The second generation exhibited centrilobular micronodules and interlobular reticular shadows on CT.
• Two single nucleotide polymorphisms in the surfactant protein C gene were identified in the proband's children.

Implications:

• The findings suggest a heritable component of interstitial pneumonia, potentially linked to surfactant protein C gene mutations.
• Earlier onset and distinct radiological patterns in subsequent generations highlight disease progression and genetic influence.
• Further research into surfactant protein C gene variants may lead to targeted therapies and improved diagnostic strategies for familial IIP.