{"orpha":280832,"name":"Congenital pulmonary airway malformation type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CCAM type 1","CPAM type 1","Congenital cystic adenomatoid malformation of the lung type 1","Congenital cystic adenomatous malformation of the lung type 1","Congenital cystic disease of the lung type 1"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280832/","orphanet_url":"https://www.orpha.net/en/disease/detail/280832","names":{"fr":{"name":"Malformation congénitale des voies aériennes pulmonaires type 1","synonyms":["CCAM type 1","CPAM type 1","Maladie adénomatoïde kystique du poumon type 1","Malformation adénomatoïde kystique du poumon type 1"],"definition":"Sous-type rare de malformation congénitale des voies respiratoires pulmonaires caractérisé par une masse multicystique de tissu pulmonaire non fonctionnel avec un ou plusieurs kystes dominants de 2 à 10 cm de diamètre, qui peuvent être entourés de kystes de plus petite taille. Il existe entre les lésions des communications intrakystiques pouvant être reliées à l'arbre trachéobronchique, généralement unilatérales et affectant un seul lobe. Les petites lésions peuvent rester asymptomatiques. La plupart des patients manifestent une détresse respiratoire pendant la période néonatale ou l'enfance, ou des infections respiratoires récurrentes plus tard dans la vie. L'hypoplasie pulmonaire et l'hydrops foetal sévère sont des complications rares. La maladie est associée à un risque accru de tumeur maligne pulmonaire, telle que le carcinome broncho-alvéolaire."},"de":{"name":"Kongenitale Fehlbildung der Atemwege Typ 1","synonyms":["CCAM Typ 1","CPAM Typ 1","Kongenitale zystische Krankheit der Lunge Typ 1","Kongenitale zystische adenomatoide Fehlbildung der Lunge Typ 1"],"definition":"Ein seltener Subtyp einer angeborenen Fehlbildung der pulmonalen Atemwege, gekennzeichnet durch eine multizystische Gewebeverdichtung von nicht funktionierendem Lungengewebe mit einer oder mehreren dominanten Zysten von 2 bis 10 cm Durchmesser, die von kleineren Zysten umgeben sein können. Die Läsionen haben intrazystische Verbindungen, können mit dem Tracheobronchialbaum verbunden sein und sind in der Regel einseitig, d. h. ein einzelner Lappen ist betroffen. Kleine Läsionen können asymptomatisch bleiben, während die meisten Fälle in der Neugeborenenperiode oder im Säuglingsalter mit Atemnot oder später im Leben mit wiederkehrenden Atemwegsinfektionen einhergehen. Pulmonale Hypoplasie und schwerer fetaler Hydrops sind seltene Komplikationen. Die Erkrankung ist mit einem erhöhten Risiko für pulmonale Malignität, wie z. B. bronchoalveolärem Karzinom, verbunden."},"es":{"name":"Malformación congénita de las vías aéreas pulmonares tipo 1","synonyms":["CCAM tipo 1","CCAM tipo I","Enfermedad quística congénita del pulmón tipo 1","Malformación adenomatoide quística congénita del pulmón tipo 1","Malformación adenomatosa quística congénita del pulmón tipo 1"],"definition":"Es un subtipo poco frecuente de malformación congénita de las vías aéreas pulmonares caracterizado por una masa multiquística de tejido pulmonar no funcionante con uno o más quistes dominantes de 2 a 10 cm de diámetro, que pueden estar rodeados por otros quistes de menor tamaño. Las lesiones presentan comunicaciones intraquísticas, pudiendo estar conectadas al árbol traqueobronquial y suelen ser unilaterales, afectando a un único lóbulo. Las lesiones pequeñas pueden permanecer asintomáticas, mientras que la mayoría de los casos se presenta con distrés respiratorio en el período neonatal o en la lactancia, o con infecciones respiratorias recurrentes en edades más tardías. La hipoplasia pulmonar y la hidropesía fetal grave son complicaciones poco frecuentes. El trastorno se asocia a un mayor riesgo de desarrollar una neoplasia pulmonar maligna, como el carcinoma broncoalveolar."},"it":{"name":"Malformazione congenita delle vie aeree polmonari, tipo 1","synonyms":["CCAM, tipo 1","CPAM, tipo 1","Malattia cistica congenita del polmone, tipo 1","Malformazione adenomatoide cistica congenita del polmone, tipo 1"],"definition":"Si tratta di un sottotipo raro di malformazione congenita delle vie aeree polmonari, caratterizzato da una massa multicistica di tessuto polmonare non funzionante con una o più cisti dominanti (di diametro compreso tra 2 e 10 cm) che possono essere circondate da cisti più piccole. Le lesioni presentano comunicazioni intracistiche, possono essere connesse all'albero tracheobronchiale, in genere sono monolaterali, e interessano un solo lobo. Le lesioni di dimensioni più piccole possono essere asintomatiche, ma la maggior parte dei pazienti presenta distress respiratorio nel periodo neonatale o nella prima infanzia, oppure, successivamente, infezioni respiratorie ricorrenti. L'ipoplasia polmonare e l'idrope fetale grave sono complicanze rare. I pazienti sono predisposti ai tumori polmonari maligni, come il carcinoma broncoalveolare."},"nl":{"name":"Congenitale malformatie van pulmonale luchtwegen type 1","synonyms":["CCAM type 1","CPAM type 1","Congenitale cystische adenomateuze malformatie van long type 1","Congenitale cystische adenomatoïde malformatie van long type 1","Congenitale cystische ziekte van long type 1"],"definition":"Een zeldzaam subtype van congenitale malformatie van pulmonale luchtwegen, gekarakteriseerd door een multicystische massa van niet-functioneel longweefsel bestaande uit een of meer dominante cysten met een diameter van 2 tot 10 cm, die omringd kunnen zijn door kleinere cysten. De laesies vertonen intracystische communicatie, kunnen verbonden zijn met tracheobronchiale boom, en zijn meestal unilateraal, met betrokkenheid van een enkele kwab. Kleine laesies kunnen asymptomatisch, terwijl de meeste gevallen zich presenteren met ademnood in de neonatale periode of zuigelingentijd, of met recidiverende luchtweginfecties op latere leeftijd. Pulmonale hypoplasie en ernstige hydrops foetalis zijn zeldzame complicaties. De aandoening is geassocieerd met een verhoogd risico op pulmonale maligniteit, zoals bronchoalveolair carcinoom."},"pt":{"name":"Malformação congénita das vias aéreas pulmonares, tipo 1","synonyms":["CCAM tipo I","CPAM tipo 1"]},"pl":{"name":"Wrodzona malformacja płuc, typu 1","synonyms":["CCAM typu 1","CPAM typu 1","Wrodzona choroba torbielowata płuc typ 1","Wrodzona torbielowatość gruczolakowata płuc typu 1"]},"cs":{"name":"Vrozená cystická adenomatozní malformace plic, typ 1","synonyms":["CCAM, typ 1","CPAM, typ 1","Vrozená cystická adenomatoidní malformace plic, typ 1","Vrozená malformace plicních bronchů, typ 1","Vrozené cystické onemocnění plic, typ 1"]},"uk":{"name":"Вроджена вада розвитку легеневих дихальних шляхів, тип 1","synonyms":["CCAM тип 1","Вроджена кістозна аденоматоїдна мальформація легень 1 типу","Вроджена кістозно-аденоматозна мальформація легень 1 типу","Вроджена кістозна хвороба легень типу 1","CPAM тип 1"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue with one or more dominant cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the neonatal period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma."},"zh":{"name":"先天性肺气道畸形1型","synonyms":["先天性肺囊性腺瘤性畸形1型"]},"tr":{"name":"Doğumsal pulmoner hava yolu malformasyonu tip 1","synonyms":["CCAM tip 1","CPAM tip 1","Akciğer tip 1'in doğumsal kistik hastalığı","Akciğer tip 1'in doğumsal kistik adenomatoid malformasyonu","Akciğer tip 1'in doğumsal kistik adenomatöz malformasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1455719613"},{"source":"MONDO","code":"0017249","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437763","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2444,"name":"Congenital pulmonary airway malformation","classifications":[147,184,186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}