title: Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.
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.
authors.affiliation: Genetics and Genome Biology Program, Research Institute, University of Toronto, Toronto, Ontario, Canada.|Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Bozana
authors.initials: B
authors.lastname: Zlateska
authors.affiliation: Genetics and Genome Biology Program, Research Institute, University of Toronto, Toronto, Ontario, Canada.|Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Amanda
authors.initials: A
authors.lastname: Ciccolini
authors.affiliation: Genetics and Genome Biology Program, Research Institute, University of Toronto, Toronto, Ontario, Canada.|Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
mesh_terms: D000293:Adolescent; D003613:Danazol / Q000627:therapeutic use*; D018450:Disease Progression; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D004965:Estrogen Antagonists / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D009154:Mutation; D011658:Pulmonary Fibrosis / Q000188:drug therapy* / Q000209:etiology; D016615:Telomere; D034501:Telomere-Binding Proteins / Q000235:genetics
chemical_list: D004965:Estrogen Antagonists; C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins; D003613:Danazol
keywords: Danazol; Dyskeratosis congenita; pulmonary fibrosis