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A Kindred of Children With Interstitial Lung Disease^*

^* From Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH.

Correspondence to: Patricia Joseph, MD, FCCP, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267-0564; e-mail: patricia.joseph{at}uc.edu

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Key Words: autoimmune diseases • interstitial lung disease • pediatrics • pulmonary fibrosis