{"orpha":98852,"name":"Desquamative interstitial pneumonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98852/","orphanet_url":"https://www.orpha.net/en/disease/detail/98852","names":{"fr":{"name":"Pneumonie interstitielle desquamative","definition":"Pneumonie interstitielle idiopathique caractérisée par une accumulation intra-alvéolaire étendue et diffuse de macrophages chargés de pigments, le plus souvent associée à une exposition prolongée à la fumée de tabac. Les patients présentent un essoufflement à l'effort à progression lente et une toux chronique avec des crépitants bilatéraux. On observe souvent un hippocratisme digital. Le test de la fonction pulmonaire révèle un trouble restrictif. La tomodensitométrie révèle généralement des opacités diffuses en verre dépoli avec une prédominance dans la zone sous-pleurale et dans la zone inférieure."},"de":{"name":"Desquamative interstitielle Pneumonie","definition":"Eine idiopathische interstitielle Lungenerkrankung, die durch eine ausgedehnte, diffuse intraalveoläre Ansammlung pigmentbeladener Makrophagen gekennzeichnet ist und am häufigsten mit langjähriger Exposition gegenüber Tabakrauch in Verbindung gebracht wird. Die Patienten leiden unter langsam fortschreitender Atemnot bei Belastung und chronischem Husten mit beidseitigem Rasseln. Häufig treten auch Trommelschlegelfinger auf. Die Lungenfunktionsprüfung zeigt ein restriktives Muster. Die Computertomographie zeigt typischerweise eine diffuse Milchglastrübung mit Dominanz subpleuraler und inferiorer Bereiche."},"es":{"name":"Neumonía intersticial descamativa","definition":"Es una neumonía intersticial idiopática poco frecuente caracterizada por un extenso acúmulo intraalveolar difuso de macrófagos cargados de pigmento, más comúnmente asociada con la exposición prolongada al humo del tabaco. Los pacientes manifiestan una dificultad respiratoria de progresión lenta con el esfuerzo y tos crónica con crepitantes bilaterales. Las acropaquias son un signo frecuente. Los estudios de la función pulmonar revelan un patrón restrictivo. La tomografía computarizada suele mostrar opacidades difusas en vidrio esmerilado con predominio subpleural y en lóbulos inferiores."},"it":{"name":"Polmonite desquamativa interstiziale","definition":"Si tratta di una polmonite interstiziale idiopatica rara, caratterizzata da un accumulo intra-alveolare esteso e diffuso di macrofagi carichi di pigmenti, di solito secondario all'esposizione prolungata al fumo di tabacco. I pazienti presentano affanno da sforzo a progressione lenta e tosse cronica con crepitii bilaterali. È comune l'ippocratismo digitale. Il test di funzionalità polmonare evidenzia una pneumopatia restrittiva. La tomografia computerizzata rivela opacità diffuse a vetro smerigliato, soprattutto nella zona subpleurica e inferiore."},"nl":{"name":"Desquamatieve interstitiële pneumonie","definition":"Een zeldzame idiopathische interstitiële pneumonie, gekarakteriseerd door extensieve, diffuse intra-alveolaire accumulatie van pigmentrijke macrofagen, doorgaans geassocieerd met langdurige blootstelling aan tabaksrook. Patiënten present eren zich met traag progressieve kortademigheid bij inspanning en chronische hoest met bilateraal ademgeruis. Trommelstokvingers worden ook vaak waargenomen. Onderzoek van longfunctie toont een restrictief patroon. Computertomografie toont doorgaans diffuse matglas-opaciteiten van vooral subpleurale en lagere zones."},"pt":{"name":"Pneumonia intersticial descamativa"},"pl":{"name":"Złuszczające śródmiąższowe zapalenie płuc"},"cs":{"name":"Deskvamační intersticiální pneumonie"},"uk":{"name":"Десквамативна інтерстиціальна пневмонія","definition":"A rare idiopathic interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly progressive shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance."},"zh":{"name":"脱屑性间质性肺炎"},"tr":{"name":"Deskuamatif interstisyel pnömoni"}},"xrefs":[{"source":"OMIM","code":"263000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB03.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1620001155"},{"source":"MONDO","code":"0009887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":98300,"name":"Idiopathic interstitial pneumonia","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}