A kindred of children with interstitial lung disease

• Published in: Chest Vol. 132; no. 1; p. 221
• Main Authors: Thomas, Heather, Risma, Kimberly A, Graham, T Brent, Brody, Alan S, Deutsch, Gail H, Young, Lisa R, Joseph, Patricia M
• Format: Journal Article
• Language: English
• Published: United States 01-07-2007
• Subjects: Adolescent; Alopecia - complications; Alopecia - genetics; Autoimmune Diseases - complications; Autoimmune Diseases - genetics; Biopsy; Child; Child, Preschool; Eczema - complications; Eczema - genetics; Female; Humans; Hypergammaglobulinemia - complications; Hypergammaglobulinemia - genetics; Infant; Joint Diseases - complications; Joint Diseases - genetics; Lung - diagnostic imaging; Lung - pathology; Lung - physiopathology; Lung Diseases, Interstitial - complications; Lung Diseases, Interstitial - genetics; Lymphocyte Subsets - immunology; Lymphocyte Subsets - pathology; Male; Pedigree; Respiratory Function Tests; Tomography, X-Ray Computed
• ISSN: 0012-3692
• DOI: 10.1378/chest.06-2476

Childhood interstitial lung disease (ILD) is a spectrum of diseases including many different rare lung conditions. We present a family with an unusual presentation of ILD in association with rheumatologic and immunologic abnormalities.
Eight children with a common father were evaluated for evidence of lung disease in association with rheumatologic findings. All underwent routine history and physical examination, hematologic evaluation, and chest radiography and/or CT scan of the chest. Seven children underwent a more extensive immunologic evaluation. Those who were able underwent pulmonary function testing, and four children underwent lung biopsy.
Six of eight children with a common father were found to have radiographic findings consistent with ILD. These children also had evidence of autoimmune disease with joint symptoms, alopecia, rheumatoid factor production, and hypergammaglobulinemia. Open-lung biopsy in four children revealed a spectrum of pulmonary lymphoid proliferations ranging from reactive lymphoid hyperplasia to lymphoid interstitial pneumonia.
The findings of ILD and autoimmunity in a kindred of children suggest a novel genetic disorder of autosomal dominant pattern and variable penetrance. Although the precise pathogenesis remains unclear, these cases provide valuable insight into childhood ILD.