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Canadian Respiratory Journal
Volume 17, Issue 6, Pages 269-274
Original Article

Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

Ranji Chibbar,1 John A Gjevre,2 Francis Shih,1 Heather Neufeld,1 Edmond G Lemire,3 Derek A Fladeland,4 and Donald W Cockcroft2

1Department of Pathology, Department of Medicine, Division of Respirology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
2Critical Care and Sleep Medicine, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
3Division of Medical Genetics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
4Department of Radiology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan, Canada

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years). The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.