Familial forms of nonspecific interstitial pneumonia/idiopathic pulmonary fibrosis:  clinical course and genetic background.
OBJECTIVE
Familial pulmonary fibrosis has long been recognized and suggests that pulmonary fibrosis may have a genetic origin in some cases with an autosomal dominant transmission.


RESULTS
Mutations in the telomerase complex and in the surfactant pathways have been discovered in the last decade. Almost 20% of the cases of familial pulmonary fibrosis are related to known functional mutations in one of these systems. A polymorphism in the promoter of the MUC5B gene has been associated with both sporadic and familial forms of idiopathic pulmonary fibrosis; however, the impact of this association remains to be determined.


CONCLUSIONS
These genes point to alveolar epithelium injury and repair as a major component of the fibrotic process.
APHP, Hôpital Bichat, Service de Pneumologie A, Centre de compétences pour les Maladies Pulmonaires Rares, Paris, France.
Raphael
R
Borie
Caroline
C
Kannengiesser
Bruno
B
Crestani
D005260:Female; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000235:genetics* / Q000503:physiopathology*; D017563:Lung Diseases, Interstitial / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D055257:Mucin-5B / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D012313:RNA / Q000235:genetics; D019098:Telomerase / Q000235:genetics
C524578:MUC5B protein, human; D055257:Mucin-5B; D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase