Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation

Abstract excerpt

The most frequent mutations in familial pulmonary fibrosis (FPF) involve genes of the telomerase complex such as TERT , TERC , RTEL1 , PARN or DKC1 [1]. Mutations within TERT and TERC are found in 15–20% of FPF and are associated with blood, liver and skin disorders. Idiopathic pulmonary fibrosis (IPF) is the most frequent multidisciplinary diagnosis in TERT and TERC mutation carriers [1, 2]. Treatment of IPF in...

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