Adult-onset familial pulmonary fibrosis in Japanese brothers

Pathol Int. 2004 Jan;54(1):41-6. doi: 10.1111/j.1440-1827.2004.01583.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carbon Monoxide / metabolism
  • Consanguinity
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / metabolism
  • Lung Diseases, Interstitial / pathology*
  • Male
  • Pedigree
  • Pulmonary Diffusing Capacity
  • Pulmonary Fibrosis / genetics*
  • Pulmonary Fibrosis / metabolism
  • Pulmonary Fibrosis / pathology*
  • Pulmonary Surfactant-Associated Protein C / genetics
  • Pulmonary Surfactant-Associated Protein C / metabolism
  • Radiography, Thoracic
  • Siblings

Substances

  • Pulmonary Surfactant-Associated Protein C
  • SFTPC protein, human
  • Carbon Monoxide