A kindred of children with interstitial lung disease.
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.


CONCLUSIONS
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.
Thomas
Heather
H
Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Cincinnati, OH 45267-0564, USA.
Risma
Kimberly A
KA
Graham
T Brent
TB
Brody
Alan S
AS
Deutsch
Gail H
GH
Young
Lisa R
LR
Joseph
Patricia M
PM
D000293:Adolescent; D000505:Alopecia / Q000150:complications / Q000235:genetics; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics*; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004485:Eczema / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics; D007223:Infant; D007592:Joint Diseases / Q000150:complications / Q000235:genetics; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000235:genetics*; D016131:Lymphocyte Subsets / Q000276:immunology / Q000473:pathology; D008297:Male; D010375:Pedigree; D012129:Respiratory Function Tests; D014057:Tomography, X-Ray Computed