Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients
| Autor: | Filippo Favuzza, Chiara Vimercati, Paola Cianci, Anita De Paoli, Raffaella Picchi, Alex Moretti, Donatella Milani, Angelo Selicorni, Elisabetta Pangallo, Massimo Agosti |
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| Přispěvatelé: | Pangallo, E, Cianci, P, Favuzza, F, Milani, D, Vimercati, C, Moretti, A, Picchi, R, De Paoli, A, Agosti, M, Selicorni, A |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Williams Syndrome Vital capacity medicine.medical_specialty Williams–Beuren syndrome Adolescent Vital Capacity pulmonary function tests chronic obstructive pulmonary disease Pulmonary function testing FEV1/FVC ratio Pulmonary Disease Chronic Obstructive Young Adult pulmonary function test Risk Factors Internal medicine Genetics medicine Humans Respiratory function Lung volumes spirometry examination Respiratory system Young adult Child Lung Genetics (clinical) COPD business.industry Middle Aged medicine.disease elastin emphysema respiratory tract diseases Elastin Respiratory Function Tests Italy Pulmonary Emphysema Spirometry Cardiology Female business |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 185(2) |
| ISSN: | 1552-4833 |
| Popis: | Williams–Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients. Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1/FVC) were measured in 22 patients (age range 18.9 ± 7.4 years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors. Dyspnea, cough and wheezing were detected in 6/22 (27%) patients. Obstructive and restrictive patterns were identified in 6/22 (27%) and 2/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1/CVF mean values were all normal, with values of 91.3% (n.v. > 80%), 84.2% (n.v. > 80%) and 0.82 (n.v. > 0.7), respectively. The severity of the comorbidities did not show a cause-effect relation with the respiratory patterns, nevertheless patients treated with anti-hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow-up of WBS patients, especially in adolescents/young adults under treatment with anti-hypertensive drugs. |
| Databáze: | OpenAIRE |
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