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Adult-onset familial pulmonary fibrosis in Japanese brothers
- Source :
- Pathology international. 54(1)
- Publication Year :
- 2003
-
Abstract
- Two Japanese brothers were diagnosed in their 20s with familial pulmonary fibrosis, the pathological findings of which were consistent with usual interstitial pneumonia (UIP). However, an atypical characteristic was observed in the lungs of these brothers; 2-mm areas of ‘honeycomb’ were identified throughout the lungs, which is smaller than the generally observed 5–10 mm honeycombing seen in UIP. Fibroblastic foci were demonstrated in the second eldest brother, but not in the eldest, which indicates that the lungs of the eldest brother was in a more advanced stage of fibrosis. Their youngest brother and parents have no clinical evidence of pulmonary fibrosis. All five family members had low values for the diffusion capacity of the lung for carbon monoxide (DLCO), suggesting the presence of an inheritable disease and the existence of different phenotypes. The genomic DNA of the affected brothers was sequenced for the reported surfactant protein C (SP-C) gene mutations in patients with familial pulmonary fibrosis, but none was documented. It is necessary to clarify the presence of novel gene mutations of SP-C or other genes to explain these particular pathological findings and the low DLCO observed in this family.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Pulmonary Fibrosis
DNA Mutational Analysis
Gene mutation
Pathology and Forensic Medicine
Consanguinity
Fatal Outcome
Fibrosis
DLCO
Usual interstitial pneumonia
Pulmonary fibrosis
medicine
Humans
Genetic Predisposition to Disease
Honeycombing
Pathological
Carbon Monoxide
Lung
business.industry
Siblings
General Medicine
respiratory system
medicine.disease
Pulmonary Surfactant-Associated Protein C
respiratory tract diseases
Pedigree
medicine.anatomical_structure
Pulmonary Diffusing Capacity
Female
Radiography, Thoracic
business
Lung Diseases, Interstitial
Subjects
Details
- ISSN :
- 14401827
- Volume :
- 54
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Pathology international
- Accession number :
- edsair.doi.dedup.....1a7c6b7df582197702d110a9e3251598