title: Adult-onset familial pulmonary fibrosis in Japanese brothers.
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.
authors.affiliation: Department of Respiratory Medicine, Juntendo University, School of Medicine, Tokyo, Japan. yoshioka@med.juntendo.ac.jp
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Yoshioka
authors.forename: Shigeki
authors.initials: S
authors.lastname: Saiki
authors.forename: Yuko
authors.initials: Y
authors.lastname: Tsutsumi-Ishii
authors.forename: Ryo
authors.initials: R
authors.lastname: Koyama
authors.forename: Naoko
authors.initials: N
authors.lastname: Hirashima
authors.forename: Norihiro
authors.initials: N
authors.lastname: Harada
authors.forename: Shigetaka
authors.initials: S
authors.lastname: Yamasaki
authors.forename: Koichi
authors.initials: K
authors.lastname: Suda
authors.forename: Yoshinosuke
authors.initials: Y
authors.lastname: Fukuchi
mesh_terms: D000328:Adult; D002248:Carbon Monoxide / Q000378:metabolism; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D010375:Pedigree; D011653:Pulmonary Diffusing Capacity; D011658:Pulmonary Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics / Q000378:metabolism; D013902:Radiography, Thoracic; D035781:Siblings
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human; D002248:Carbon Monoxide