Familial interstitial lung disease (ILD) is defined as presence of ILD in 2 or more family members. Surfactant protein C (SFTPC)\ngene mutations are rare, but well-known cause of familial ILD. We reported a 20-year-old male, who was referred for lung\ntransplantation. He was symptomatic at age 3 and underwent surgical lung biopsy at age 6, which revealed a nonspecific interstitial\npneumonia (NSIP) pattern. Genetic workup revealed a novel SFTPC mutation in the first intron with a C to A transversion. At\nage 21, he underwent bilateral lung transplantation. Explanted lung histology suggested NSIP. In addition there was pulmonary\nneuroendocrine cell (PNEC) hyperplasia and carcinoid tumorlets. His mother had undergone lung transplantation several years\nearlier, and her explanted lung showed similar pathology. SFTPCmutations are inherited in an autosomal dominant pattern.Various\ntypes of ILD have been associated with SFTPC mutation including NSIP, usual interstitial pneumonia (UIP), and desquamative\ninterstitial pneumonia (DIP). PNEC hyperplasia has been described to occur in association with lung inflammation but has not\nbeen previously described with familial ILD associated with SFTPC mutation.
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