RESUMO
Genetic studies of familial forms of interstitial lung disease (ILD) have led to the discovery of telomere-related gene (TRG) mutations (TERT, TERC, RTEL1, PARN, DKC1, TINF2, NAF1, NOP10, NHP2, ACD, ZCCH8) in approximately 30% of familial ILD forms. ILD patients with TRG mutation are also subject to extra-pulmonary (immune-hematological, hepatic and/or mucosal-cutaneous) manifestations. TRG mutations may be associated not only with idiopathic pulmonary fibrosis (IPF), but also with non-IPF ILDs, including idiopathic and secondary ILDs, such as hypersensitivity pneumonitis (HP). The presence of TRG mutation may also be associated with an accelerated decline of forced vital capacity (FVC) or poorer prognosis after lung transplantation, notwithstanding which, usual ILD treatments may be proposed. Lastly, patients and their relatives are called upon to reduce their exposure to environmental lung toxicity, and are likely to derive benefit from specific genetic counseling and pre-symptomatic genetic testing.
Assuntos
Fibrose Pulmonar Idiopática , Doenças Pulmonares Intersticiais , Proteínas de Ciclo Celular/genética , Humanos , Fibrose Pulmonar Idiopática/diagnóstico , Fibrose Pulmonar Idiopática/epidemiologia , Fibrose Pulmonar Idiopática/genética , Pulmão , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/epidemiologia , Doenças Pulmonares Intersticiais/genética , Proteínas Nucleares/genética , Telômero , Capacidade VitalRESUMO
CONTEXT: A definite cause of sarcoidosis has not been identified, however past research suggests that environmental factors may be triggers of the granulomatous response in genetically susceptible individuals. CASE PRESENTATION: A 22-year-old male non-smoker, presented with progressive exertional dyspnea and cough of 3 months duration. One year before, when he started working in tunnel excavation, he had a normal chest radiograph. Chest imaging revealed bilateral nodules and masses of peribronchovascular distribution plus mediastinal lymphadenomegaly. Histologic lymph node analysis revealed non-caseating confluent granulomas. Sarcoidosis was diagnosed. The patient was treated with corticosteroids and advised to change jobs. Complete remission of the disease was achieved and persisted for at least one year without steroid treatment. DISCUSSION: Sarcoidosis is believed to have environmental triggers. The timing of the onset of sarcoidosis in this patient following intensive exposure to tunnel dust suggests an environmental contribution. The recognition that sarcoidosis may have occupational triggers have medical, employment, and legal implications.
