Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol

Bozana Zlateska, A Ciccolini, Yigal Dror
In: Pediatric Pulmonology · 2015 · vol. 50(12) , pp. E48–E51 · doi:10.1002/ppul.23235 · PMID:26083318 · W2141933794
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Danazol therapy significantly improved clinical and laboratory parameters in a child with TINF2-associated dyskeratosis congenita and severe pulmonary fibrosis.

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Abstract

Individuals with Dyskeratosis Congenita (DC) are at increased risk for complications in variety of systems including pulmonary fibrosis. Idiopathic and DC-associated pulmonary fibrosis are progressive and fatal disorders without known treatment. Here we describe, for the first time, marked improvement in the clinical and laboratory parameters of the pulmonary disease of a child who suffered from TINF2-associated DC and severe pulmonary fibrosis after initiation of therapy with Danazol. We recommend that the clinical efficacy of Danazol in slowing down the progression of pulmonary fibrosis in patients with telomere-related disorders is evaluated in prospective studies.

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