Clinical genetics for the pulmonologist: introduction.

摘要

The genetic origin of a disease or syndrome may occasionally be suspected right away, at the first visit of the patient, when it is presented in the context of respiratory symptoms and associated extrapulmonary manifestations that suggest a specific diagnosis (for example, Kart-agener syndrome suggested by diffuse bronchiectasis, chronic sinusitis, male infertility, and situs inversus). More often, however, respiratory diseases of genetic origin present with poorly specific manifestations, so that the underlying genetic syndrome might remain unrecognized for a long time. For example, immunoglobulin deficiency or 'formes frustes' of cystic fibrosis may not be diagnosed unless specific investigations are performed in a patient with bronchiectasis and recurrent bronchial infections. The familial Birt-Hogg-Dube syndrome (characterized by recurrent pneumothorax related to lung cysts, and papular skin lesions) may remain unrecognized since few physicians are aware of this rare condition. Nail dystrophy (corresponding to dyskeratosis con-genita) may be overlooked in a patient with pulmonary fibrosis, unless attention is paid to concomitant skin hy-perpigmentation and leukoplakia of mucous membranes . Nonpulmonary manifestations of the tuberous sclerosis complex may be subtle in a patient with pulmonary lymphangioleiomyomatosis. The recognition of the genetic basis underlying respiratory diseases is even less apparent when it is limited to genetic predisposition to the disease, such as in asthma.