{"orpha":264688,"name":"Congenital chylothorax","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-264688/","orphanet_url":"https://www.orpha.net/en/disease/detail/264688","names":{"fr":{"name":"Chylothorax congénital","definition":"Le chylothorax congénital est un trouble néonatal mettant potentiellement en jeu le pronostic vital. Il se caractérise par l'accumulation de chyle dans l'espace pleural, ce qui conduit à une détresse respiratoire, une malnutrition et un compromis immunologique, toute de suite après la naissance ou au cours des premières semaines de vie. Il s'agit de la cause la plus fréquente d'effusion pleurale chez le nouveau-né. Il peut survenir de manière primaire, causé par des anomalies de développement des canaux lymphatiques, ou il peut être associé à des anomalies chromosomiques (ex. syndrome de Noonan, syndrome de Turner, trisomie 21), une anasarque foeto-placentaire, un neuroblastome médiastinal et d'autres malformations congénitales."},"de":{"name":"Chylothorax, kongenitale"},"es":{"name":"Quilotórax congénito","definition":"Es una afección neonatal, poco frecuente y potencialmente letal, caracterizada por el acúmulo de quilo en el espacio pleural que conduce a distrés respiratorio, malnutrición y compromiso inmunológico, ya sea inmediatamente después del nacimiento o durante las primeras semanas de vida. El quilotórax congénito es la causa más común de derrame pleural en neonatos y puede producirse principalmente como resultado de anomalías del desarrollo del conducto linfático o estar asociado a anomalías cromosómicas (p. ej., síndrome de Noonan, síndrome de Turner y síndrome de Down), hidropesía fetal, neuroblastoma mediastínico y otras malformaciones congénitas."},"it":{"name":"Chilotorace congenito","definition":"Il chilotorace congenito è una malattia neonatale rara, potenzialmente letale, caratterizzata dall'accumulo di chilo nel torace, che causa distress respiratorio, malnutrizione e compromissione del sistema immunitario, subito dopo la nascita o durante le prime settimane di vita. Il chilotorace congenito è la causa più comune di versamento pleurico nei neonati; è causata prevalentemente da anomalie nello sviluppo del dotto linfatico oppure da anomalie cromosomiche (sindrome di Noonan, sindrome di Turner e sindrome di Down), idrope fetale, neuroblastoma del mediastino e altre malformazioni congenite."},"nl":{"name":"Congenitale chylothorax","definition":"Congenitale chylothorax is een zeldzame, potentieel levensbedreigende neonatale conditie die gekarakteriseerd wordt door de accumulatie van chylus in de pleurale ruimte, wat leidt tot ademnood, malnutritie en immunologische defecten, ofwel onmiddellijk na de geboorte ofwel binnen de eerste weken na de geboorte. Congenitale chylothorax is de meest voorkomende oorzaak van pleurale effusie bij neonaten; het kan primair voorkomen als gevolg van ontwikkelingsanomalieën van lymfevaten of kan geassocieerd zijn met chromosomale anomalieën (e.g. syndroom van Noonan, syndroom van Turner en syndroom van Down), hydrops foetalis, mediastinaal neuroblastoom en andere congenitale malformaties."},"pt":{"name":"Quilotórax congénito"},"pl":{"name":"Chłonkotok wrodzony"},"cs":{"name":"Vrozený chylotorax"},"uk":{"name":"Вроджений хілоторакс","definition":"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations."},"zh":{"name":"先天性乳糜胸","definition":"先天性乳糜胸是一种罕见的、可能危及生命的新生儿疾病，其特征是在出生后不久或是在生命的最初几周内出现乳糜在胸膜腔内积聚，导致呼吸窘迫、营养不良和免疫功能损害。先天性乳糜胸是新生儿胸腔积液最常见的原因，主要可由淋巴管发育异常引起，也可与染色体异常(如Noonan综合征、Turner综合征和Down综合征)、胎儿水肿、纵隔神经母细胞瘤和其他先天性畸形有关。"},"tr":{"name":"Doğumsal şilotoraks"}},"xrefs":[{"source":"OMIM","code":"603523","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J94.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"641475779"},{"source":"MONDO","code":"0011331","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340014","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10156","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078770","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264683,"name":"Primary interstitial lung disease specific to childhood due to alveolar vascular disorder","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.17,"area":"Germany","status":"Validated","source":"25480460[PMID]"}],"phenotypes":null}