{"orpha":280854,"name":"Congenital pulmonary airway malformation type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CPAM type 4","Congenital cystic adenomatoid malformation of the lung type 4","Congenital cystic adenomatous malformation of the lung type 4"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280854/","orphanet_url":"https://www.orpha.net/en/disease/detail/280854","names":{"fr":{"name":"Malformation congénitale des voies aériennes pulmonaires type 4","synonyms":["CPAM type 4","Maladie adénomatoïde kystique du poumon type 4","Malformation adénomatoïde kystique du poumon type 4"],"definition":"Sous-type rare de malformation congénitale des voies aériennes pulmonaires caractérisé par une masse multikystique de tissu pulmonaire non fonctionnel, constituée de grands kystes périphériques entourés d'une membrane translucide, de 8 cm de diamètre. Il existe entre les lésions des communications intrakystiques, pouvant être reliées à l'arbre trachéobronchique, généralement unilatérales et affectant un seul lobe. Les patients présentent une détresse respiratoire ou des infections respiratoires pendant la période néonatale ou la petite enfance. La maladie est souvent associée à un pneumothorax sous tension, à des signes de déplacement médiastinal et à une transformation maligne en blastome pleuropulmonaire de type 1."},"de":{"name":"Kongenitale Fehlbildung der Atemwege Typ 4","synonyms":["CCAM Typ 4","CPAM Typ 4","Kongenitale zystische Krankheit der Lunge Typ 4","Kongenitale zystische adenomatoide Fehlbildung der Lunge Typ 4"],"definition":"Ein seltener Subtyp einer angeborenen Fehlbildung der pulmonalen Atemwege, gekennzeichnet durch eine multizystische Gewebeverdichtung von nicht funktionierendem Lungengewebe mit peripheren, großen, dünnwandigen, oft multilokulären Zysten, die einen Durchmesser von bis zu 8 cm haben können. Die Läsionen haben intrazystische Verbindungen, können mit dem Tracheobronchialbaum in Verbindung stehen und sind in der Regel einseitig und betreffen einen einzelnen Lappen. Die Patienten treten mit Atemnot oder Atemwegsinfektionen in der Neugeborenenperiode oder im Säuglingsalter auf. Die Erkrankung geht häufig mit einem Spannungspneumothorax, Anzeichen einer Mediastinalverschiebung und einer malignen Transformation in ein pleuropulmonales Blastom Typ 1 einher."},"es":{"name":"Malformación congénita de las vías aéreas pulmonares tipo 4","synonyms":["CPAM tipo 4","Malformación adenomatoide quística congénita del pulmón tipo 4","Malformación adenomatosa quística congénita del pulmón tipo 4"],"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 quistes periféricos, grandes, de paredes delgadas, a menudo multiloculados, que pueden tener 8 cm de diámetro. Las lesiones presentan comunicaciones intraquísticas, pudiendo estar conectadas al árbol traqueobronquial y, por lo general, son unilaterales, afectando a un único lóbulo. Los pacientes se presentan con distrés o infecciones respiratorias en el período neonatal o en la lactancia. La condición a menudo está asociada a neumotórax a tensión, signos de desplazamiento mediastínico y transformación maligna a blastoma pleuropulmonar tipo 1."},"it":{"name":"Malformazione congenita delle vie aeree polmonari, tipo 4","synonyms":["CPAM, tipo 4","Malformazione adenomatoide cistica congenita del polmone, tipo 4"],"definition":"Si tratta di un sottotipo raro di malformazione congenita delle vie aeree polmonari, caratterizzata da una massa multicistica di tessuto polmonare non funzionante, con grandi cisti periferiche con pareti sottili, spesso multiloculate, che possono raggiungere un diametro di 8 cm. Le lesioni presentano comunicazioni intracistiche, possono essere connesse all'albero tracheobronchiale, di solito sono monolaterali e interessano un solo lobo. I pazienti presentano distress respiratorio o infezioni respiratorie nel periodo neonatale o nella prima infanzia. Spesso la malattia si associa allo pneumotorace iperteso, allo spostamento del mediastino e all'evoluzione maligna verso il blastoma pleuropolmonare tipo 1."},"nl":{"name":"Congenitale malformatie van pulmonale luchtwegen type 4","synonyms":["CCAM type IV","CPAM type 4","Congenitale cystische adenomateuze malformatie van long type 4","Congenitale cystische adenomatoïde malformatie van long type 4"],"definition":"Een zeldzaam subtype van congenitale malformatie van pulmonale luchtwegen, gekarakteriseerd door een multicystische massa van niet-functioneel longweefsel bestaande uit perifere, grote, vaak multiloculaire cysten met een dunne wand en met een diameter tot wel 8 cm. De laesies vertonen intracystische communicatie, kunnen verbonden zijn met tracheobronchiale boom, en zijn meestal unilateraal, met betrokkenheid van een enkele kwab. Patiënten presenteren zich met ademnood of luchtweginfectie in de neonatale periode of zuigelingentijd. De aandoening is vaak geassocieerd met spanningspneumothorax, verschijnselen van mediastinale shift, en maligne transformatie naar pleuropulmonaal blastoom type 1."},"pt":{"name":"Malformação congénita das vias aéreas pulmonares, tipo 4","synonyms":["CPAM tipo 4"]},"pl":{"name":"Wrodzona malformacja dróg oddechowych płuc, typu 4","synonyms":["CPAM typu 4","Wrodzona torbielowatość gruczolakowata płuc typu 4"]},"cs":{"name":"Vrozená cystická adenomatozní malformace plic, typ 4","synonyms":["CCAM, typ 4","Vrozená cystická adenomatoidní malformace plic, typ 4","Vrozená malformace plicních bronchů, typ 4"]},"uk":{"name":"Вроджена вада розвитку легеневих дихальних шляхів, тип 4","synonyms":["Вроджена кістозна аденоматоїдна мальформація легень 4 типу","Вроджена кістозно-аденоматозна мальформація легень 4 типу","CPAM тип 4"],"definition":"A rare subtype of congenital pulmonary airway malformation characterized by a multicystic mass of non-functioning lung tissue, with peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the neonatal period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1."},"zh":{"name":"先天性肺气道畸形4型","synonyms":["先天性肺囊性腺瘤样畸形4型"]},"tr":{"name":"Doğumsal pulmoner hava yolu malformasyonu tip 4","synonyms":["CPAM tip 4","Akciğer tipi 4'ün doğumsal kistik adenomatoid malformasyonu","Akciğer tipi 4'ün 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":"1737719514"},{"source":"MONDO","code":"0017252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437760","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}