Familial interstitial disease with I73T mutation: A mid- and long-term study

Area of Science:

• Pulmonology
• Genetics
• Pediatrics

Background:

• Chronic interstitial lung disease (chILD) in children can be associated with genetic mutations.
• The I73T mutation in surfactant protein genes is a rare cause of chILD.

Purpose of the Study:

• To describe the long-term course and management of chILD associated with the I73T mutation in a pediatric cohort.
• To evaluate the clinical, radiological, and histological features of this condition.

Main Methods:

• Retrospective and prospective analysis of clinical, radiological, and histological data from one family with five children and two adults.
• Genetic screening for surfactant protein gene mutations.
• Bronchoalveolar lavage (BAL) and lung biopsies in affected children.

Main Results:

• Children presented with respiratory symptoms around 6 months of age.
• Treatment with methylprednisolone pulses, oral prednisolone, hydroxychloroquine, and mycophenolate mofetil led to clinical improvement and cessation of oxygen support.
• CT scans showed initial ground-glass opacities evolving to cysts with clinical improvement.

Conclusions:

• The I73T mutation leads to variable respiratory involvement and prognosis in children.
• Genetic screening is crucial for diagnosing chILD related to surfactant protein gene mutations.
• Early diagnosis and appropriate management can significantly improve outcomes.