Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features
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 m...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Canadian Respiratory Journal |
| Online Access: | http://dx.doi.org/10.1155/2010/591523 |
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| author | Ranji Chibbar John A Gjevre Francis Shih Heather Neufeld Edmond G Lemire Derek A Fladeland Donald W Cockcroft |
| author_facet | Ranji Chibbar John A Gjevre Francis Shih Heather Neufeld Edmond G Lemire Derek A Fladeland Donald W Cockcroft |
| author_sort | Ranji Chibbar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-038a90b29dde46d9bbe305aba573a92a |
| institution | Kabale University |
| issn | 1198-2241 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Respiratory Journal |
| spelling | doaj-art-038a90b29dde46d9bbe305aba573a92a2025-08-20T03:54:14ZengWileyCanadian Respiratory Journal1198-22412010-01-0117626927410.1155/2010/591523Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical FeaturesRanji Chibbar0John A Gjevre1Francis Shih2Heather Neufeld3Edmond G Lemire4Derek A Fladeland5Donald W Cockcroft6Department of Pathology, Department of Medicine, Division of Respirology, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaCritical Care and Sleep Medicine, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaDepartment of Pathology, Department of Medicine, Division of Respirology, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaDepartment of Pathology, Department of Medicine, Division of Respirology, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaDivision of Medical Genetics, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaDepartment of Radiology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaCritical Care and Sleep Medicine, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, CanadaA 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.http://dx.doi.org/10.1155/2010/591523 |
| spellingShingle | Ranji Chibbar John A Gjevre Francis Shih Heather Neufeld Edmond G Lemire Derek A Fladeland Donald W Cockcroft Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features Canadian Respiratory Journal |
| title | Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features |
| title_full | Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features |
| title_fullStr | Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features |
| title_full_unstemmed | Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features |
| title_short | Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features |
| title_sort | familial interstitial pulmonary fibrosis a large family with atypical clinical features |
| url | http://dx.doi.org/10.1155/2010/591523 |
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