Revue des maladies respiratoires
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Multicenter Study Comparative Study
[Prognostic value of clinical exercise testing in idiopathic pulmonary fibrosis].
Current guidelines for referring patients with idiopathic pulmonary fibrosis (IPF) for lung transplantation, based on resting parameters, are insufficient to predict 3-year mortality. The aim of this study was to determine the prognostic value of cardio-pulmonary exercise testing (CPET) in patients with IPF. A multicentre retrospective study of 3-year outcome was made on 63 adult patients with IPF who underwent CPET with blood gas analysis. ⋯ The multivariate logistic regression analysis showed that CPT (<65%) and VE/VO(2) at VT (>45) were independently associated with a lower survival at 3 years. Restriction and hyperventilation at ventilatory threshold are major prognostic factors in the course of IPF. CPET with blood gas analysis may have a prognostic value in these patients and initial evaluation of these parameters can help to predict disease progression.
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The Birt-Hogg-Dubé (BHD) syndrome is associated with cutaneous disorders including fibrofolliculomas and trichodiscomas, and also lung pneumatocysts and kidney tumours. The BHD syndrome occurs as a consequence of an autosomal dominantly inherited genodermatosis, linked to multiple germline mutations in the 14 exons of the BHD gene, mapped on 17p11.2 and encoding for folliculin (FLCN). The size and number of lung pneumatocysts are extremely variable and the cysts are surrounded by normal pulmonary tissue. ⋯ However, they must be systematically evaluated since kidney tumours occur in one third of patients. We report a case of classical BHD syndrome with specific cutaneous involvement, recurrent pneumothoraces complicating lung cysts, an exon 12 germline mutation on BHD gene and a familial history suggesting other related cases. This observation allows us to update this orphan disease, to consider BHD in the differential diagnosis of lung cysts and, above all, to highlight the high frequency and the prognostic significance of associated kidney tumours.