{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:41:05Z","timestamp":1790430065892,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T00:00:00Z","timestamp":1558396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We aimed to call attention to respiratory system manifestations which occur in the course of many inherited metabolic diseases (IMD), and present as the leading cause of death.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We retrospectively reviewed the diagnosis, treatment, and outcome of patients evaluated at our hospital between June 2012 and June 2018 with a diagnosis of IMD and accompanying respiratory manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 50 children (29 [58%] male, 21 [42%] female) with IMD and respiratory manifestations were defined. Disorders of intracellular metabolism (n\u2009=\u200933, 66%) formed the majority, followed by intoxication type metabolic disorders (n\u2009=\u20099, 18%) and energy metabolism disorders (n\u2009=\u20098, 16%). The most frequent respiratory symptoms were snoring (20, 40%), tachypnea (16, 32%) and wheezing (14, 28%). Physical examination findings were signs of respiratory distress (n\u2009=\u200928, 56%), crackles (n\u2009=\u200924, 48%), thoracic deformity (n\u2009=\u200923, 46%), decreased breath sounds (n\u2009=\u200917, 34%), rhonchus (n\u2009=\u200917, 34%), wheezing (n\u2009=\u200917, 34%) and stridor (n\u2009=\u200910, 20%). Major respiratory manifestations were chronic airway aspiration (n\u2009=\u200923, 46%), upper airway obstruction (n\u2009=\u200923, 46%), and recurrent pneumonia (n\u2009=\u200918, 36%). Twenty\u2010three 23 patients (46%) experienced endotracheal intubation, 9 patients (18%) required whole\u2010house mechanical ventilation and tonsilloadenoidectomy was performed in 7 patients (14%). Overall survival rate was 70% (n\u2009=\u200935) in a median follow\u2010up period of 2.36 (0.05\u20105.86) years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Respiratory system manifestations of IMD strongly relate with increased morbidity and mortality. Therefore, prompt diagnosis and correct intervention of respiratory complications with a multidisciplinary team including pediatric metabolic diseases specialists, pulmonologists, otorhinolaryngologists, physiotherapists, and anesthesiologists are crucial to prevent progression and irreversible damage.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24359","type":"journal-article","created":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T06:53:10Z","timestamp":1558507990000},"page":"1190-1199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Respiratory manifestations in inherited metabolic diseases: 6\u2010year single\u2010center experience"],"prefix":"10.1002","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6365-8059","authenticated-orcid":false,"given":"Nisa Eda \u00c7ullas","family":"Ilarslan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cebeci Hospital Ankara University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Gunay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cebeci Hospital Ankara University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazan","family":"Cobanoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology, Cebeci Hospital Ankara University School of Medicine Mamak, Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cebeci Hospital Ankara University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Tuba","family":"Eminoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Cebeci Hospital Ankara University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,21]]},"reference":[{"key":"e_1_2_9_1_2_1","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00008012"},{"key":"e_1_2_9_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2011.01.004"},{"key":"e_1_2_9_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)68970-8"},{"key":"e_1_2_9_1_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2008.005330"},{"key":"e_1_2_9_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.027"},{"key":"e_1_2_9_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.01.017"},{"key":"e_1_2_9_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00122-1"},{"key":"e_1_2_9_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20725"},{"key":"e_1_2_9_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20248"},{"key":"e_1_2_9_1_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0367-x"},{"key":"e_1_2_9_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2010.10.005"},{"key":"e_1_2_9_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.04.044"},{"key":"e_1_2_9_1_14_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.02.00258702"},{"key":"e_1_2_9_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2012.03825.x"},{"key":"e_1_2_9_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0555-5"},{"key":"e_1_2_9_1_17_1","doi-asserted-by":"publisher","DOI":"10.1021\/jm300342q"},{"key":"e_1_2_9_1_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009950.81514.c8"},{"key":"e_1_2_9_1_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020296"},{"key":"e_1_2_9_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2007.123653"},{"key":"e_1_2_9_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3219-6"},{"key":"e_1_2_9_1_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-16"},{"key":"e_1_2_9_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00408-016-9893-0"},{"key":"e_1_2_9_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01325.x"},{"key":"e_1_2_9_1_25_1","unstructured":"LeroyJG CatheyS FriezMJMucolipidosis II. 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