{"orpha":300564,"name":"Combined pulmonary fibrosis-emphysema syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPFE"],"definition":"A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300564/","orphanet_url":"https://www.orpha.net/en/disease/detail/300564","names":{"fr":{"name":"Syndrome d'emphysème-fibrose pulmonaire combinés","synonyms":["CPFE","Syndrome combiné d'emphysème des sommets-fibrose pulmonaire des bases"],"definition":"Pneumopathie interstitielle rare caractérisée par la coexistence d'un emphysème et d'une pneumonie interstitielle usuelle, survenant généralement chez les fumeurs de sexe masculin. L'emphysème s'observe généralement dans les lobes supérieurs et précède la fibrose des lobes inférieurs. Les patients présentent une dyspnée sévère et une nette diminution de la capacité de diffusion pulmonaire lors des tests fonctionnels, alors que les valeurs de la spirométrie sont relativement préservées. Une hypertension pulmonaire et une lésion pulmonaire aiguë sont des complications fréquentes."},"de":{"name":"Kombiniertes pulmonales fibrosierendes Emphysem-Syndrom","synonyms":["CPFE"],"definition":"Eine seltene interstitielle Lungenerkrankung, die durch das Nebeneinander von Emphysem und gewöhnlicher interstitieller Lungenentzündung gekennzeichnet ist und in der Regel bei männlichen Rauchern auftritt. Das Emphysem tritt in der Regel in den oberen Lungenflügeln auf und geht der Fibrose in den unteren Lungenflügeln voraus. Die Patienten leiden unter schwerer Dyspnoe und einer deutlich reduzierten Diffusionskapazität bei Funktionstests, während die spirometrischen Werte relativ gut erhalten sind. Das Syndrom wird häufig durch pulmonale Hypertonie und akute Lungenverletzungen kompliziert."},"es":{"name":"Síndrome combinado enfisema-fibrosis pulmonar","synonyms":["CPFE"],"definition":"Es una enfermedad pulmonar intersticial poco frecuente caracterizada por la coexistencia de enfisema y neumonía intersticial usual que ocurre habitualmente en varones fumadores. El enfisema suele desarrollarse en los lóbulos superiores, precediendo a la fibrosis de los lóbulos inferiores. Los pacientes presentan disnea grave y una capacidad de difusión notablemente reducida en los estudios funcionales, mientras que los valores espirométricos están relativamente conservados. El síndrome se suele complicar por hipertensión pulmonar y lesión pulmonar aguda."},"it":{"name":"Sindrome fibrosi polmonare-enfisema combinati","synonyms":["CPFE"],"definition":"Si tratta di una pneumopatia interstiziale rara, caratterizzata dalla presenza concomitante di un enfisema e una pneumopatia interstiziale comune, che di solito colpiscono i maschi fumatori. In genere l'enfisema interessa i lobi superiori e precede la fibrosi dei lobi inferiori. I pazienti presentano dispnea grave e capacità di diffusione molto ridotta ai test funzionali, mentre i valori della spirometria sono relativamente preservati. La malattia spesso si associa a complicanze come l'ipertensione polmonare e il danno polmonare acuto."},"nl":{"name":"Gecombineerde pulmonale fibrose-emfyseem-syndroom","synonyms":["CPFE"],"definition":"Een zeldzame interstitiële longziekte, gekarakteriseerd door co-existentie van emfyseem en gewone interstitiële pneumonie, die doorgaans voorkomt bij mannelijke rokers. Emfyseem wordt meestal aangetroffen in bovenkwabben, en gaat vooraf aan fibrose van onderkwabben. Patiënten presenteren zich met ernstige dyspneu en aanzienlijk gereduceerde diffusiecapaciteit bij functionele testen, terwijl spirometrische waarden relatief behouden blijven. Het syndroom wordt vaak gecompliceerd door pulmonale hypertensie en acuut letsel van long."},"pt":{"name":"Síndrome combinada de fibrose pulmonar com enfisema"},"pl":{"name":"Zespół współistnienia włóknienia i rozedmy płuc","synonyms":["CPFE"]},"cs":{"name":"Syndrom kombinované pulmonární fibrózy a emfyzému","synonyms":["CPFE"]},"uk":{"name":"Комбінований синдром легеневого фіброзу-емфіземи","synonyms":["CPFE"],"definition":"A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury."},"zh":{"name":"肺纤维化-肺气肿综合征","synonyms":["肺纤维化-肺气肿综合征"]},"tr":{"name":"Kombine pulmoner fibrozis-amfizem sendromu","synonyms":["CPFE"]}},"xrefs":[{"source":"ICD-10","code":"J84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB03.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1361267223"},{"source":"MONDO","code":"0017591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3872815","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076515","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":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}