title: Familial interstitial pulmonary fibrosis: a large family with atypical clinical features.
abstract: 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, ATPbinding cassette protein A3 and telomerase, and found no abnormalities.
authors.affiliation: Department of Pathology, Department of Medicine, Division of Respirology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan.
authors.forename: Ranji
authors.initials: R
authors.lastname: Chibbar
authors.forename: John A
authors.initials: JA
authors.lastname: Gjevre
authors.forename: Francis
authors.initials: F
authors.lastname: Shih
authors.forename: Heather
authors.initials: H
authors.lastname: Neufeld
authors.forename: Edmond G
authors.initials: EG
authors.lastname: Lemire
authors.forename: Derek A
authors.initials: DA
authors.lastname: Fladeland
authors.forename: Donald W
authors.initials: DW
authors.lastname: Cockcroft
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011859:Radiography; D019098:Telomerase / Q000235:genetics*; D055815:Young Adult
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human; D019098:Telomerase