{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:51Z","timestamp":1790679231726,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,7,9]],"date-time":"2007-07-09T00:00:00Z","timestamp":1183939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Anderson\u2013Fabry disease (AFD) is an X\u2010linked disorder caused by deficient activity of enzyme \u03b1\u2010galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow\u2010up. The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods:<\/jats:title><jats:p>Fifty individuals (27 women, 23 men, mean age 40\u00b114 years) with AFD from 14 families underwent a static spirometric examination under standard conditions. A set of indices was compared with that of the control population. Out of this cohort, 39 individuals not receiving enzyme replacement therapy were longitudinally evaluated (median follow\u2010up time 24 months).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>A clinically significant reduction in spirometric parameters, corresponding to mild to severe airway obstruction, was observed in 26% of women and 61% of men. During the serial follow\u2010up, a significant (<jats:italic>p<\/jats:italic>&lt;0.05) age\u2010dependent reduction of predicted %FVC and %FEV<jats:sub>1<\/jats:sub> values was observed in male patients, while the influence of age was not seen in female patients. The %FEF<jats:sub>25\u201375<\/jats:sub> values decreased by similar degrees in men and women and in older and younger patients, indicating that progressive bronchial disease affects the small airways first.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>We have demonstrated a clinically relevant age\u2010 and sex\u2010dependent progressive pulmonary involvement in AFD patients. The effects of enzyme replacement therapy on pulmonary involvement remain to be demonstrated.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-007-0616-9","type":"journal-article","created":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T16:01:37Z","timestamp":1184601697000},"page":"790-799","source":"Crossref","is-referenced-by-count":50,"title":["Natural history of the respiratory involvement in Anderson\u2013Fabry disease"],"prefix":"10.1002","volume":"30","author":[{"given":"S.","family":"Magage","sequence":"first","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010C.","family":"Lubanda","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Susa","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bultas","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Karetov\u00e1","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Dobrovoln\u00fd","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Charles University in Prague, First Faculty of Medicine Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"H\u0159eb\u00ed\u010dek","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Charles University in Prague, First Faculty of Medicine Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. P.","family":"Germain","sequence":"additional","affiliation":[{"name":"Department of Genetics Georges Pompidou European Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Linhart","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Charles University in Prague, First Faculty of Medicine U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.155.3.9116979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-4-200302180-00014"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-005-0656-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01606034"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)02380-X"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90542-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.55.8.720"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2000.105105"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"issue":"11","key":"e_1_2_1_14_1","first-page":"37","article-title":"Respiratory involvement in patients with Fabry disease","volume":"21","author":"Magage S","year":"2005","journal-title":"Med Sci"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1183\/09041950.005s1693"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90224-7"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.95.08081398"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1991.tb01510.x"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000091253.71282.04"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0616-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0616-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:01:14Z","timestamp":1694754074000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0616-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,9]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1007\/s10545-007-0616-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0616-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,9]]}}}