{"orpha":217563,"name":"Neonatal acute respiratory distress syndrome due to SP-B deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal acute respiratory distress due to surfactant protein B deficiency"],"definition":"A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217563/","orphanet_url":"https://www.orpha.net/en/disease/detail/217563","names":{"fr":{"name":"Syndrome de détresse respiratoire aiguë néonatale par déficit en SP-B","synonyms":["Détresse respiratoire aiguë néonatale par déficit en protéine B du surfactant"],"definition":"Pneumopathie interstitielle génétique rare caractérisée par une détresse respiratoire réfractaire progressive engageant potentiellement le pronostic vital, causée par un déficit en surfactant, particulièrement fréquent dans les poumons immatures. Elle touche principalement les prématurés, mais peut également affecter les nouveau-nés à terme. Dans la plupart des cas, elle est létale au cours des premiers mois de vie. La biopsie pulmonaire révèle des modifications caractéristiques de la protéinose alvéolaire pulmonaire, notamment une fibrose interstitielle et une inflammation, ainsi qu'une accumulation de matière granuleuse protéique, éosinophile et riche en lipides, composée de pneumocytes de type II desquamés et de macrophages spumeux dans les espaces aériens alvéolaires."},"de":{"name":"Neonatales akutes Atemnotsyndrom durch Surfactant-Protein B-Defizienz","synonyms":["Akute neonatale Atemnot durch SP-B-Defizienz"],"definition":"Eine seltene genetisch bedingte interstitielle Lungenerkrankung, die durch fortschreitende und lebensbedrohliche refraktäre Atemnot gekennzeichnet ist, die durch einen Mangel an Surfactant verursacht wird und besonders in unreifen Lungen vorkommt. Sie wird vor allem bei Frühgeborenen beobachtet, kann aber auch voll ausgetragene Neugeborene betreffen. In den meisten Fällen endet sie innerhalb der ersten Lebensmonate tödlich. Die Lungenbiopsie zeigt Veränderungen, die für die pulmonale Alveolarproteinose charakteristisch sind, darunter interstitielle Fibrose und Entzündung sowie eine Anhäufung von lipidreichem, eosinophilem, proteinhaltigem, körnigem Material, das aus desquamierten Typ-II-Pneumozyten und schaumigen Makrophagen in den Alveolarlufträumen besteht."},"es":{"name":"Síndrome de dificultad respiratoria aguda neonatal por deficiencia de SP-B","synonyms":["Dificultad respiratoria aguda neonatal por deficiencia de proteína surfactante B"],"definition":"Es una enfermedad pulmonar intersticial, de origen genético y poco frecuente, caracterizada por dificultad respiratoria refractaria progresiva y potencialmente mortal causada por deficiencia de surfactante, que es particularmente prevalente en pulmones inmaduros. Se observa principalmente en neonatos prematuros, pero también puede afectar a neonatos a término. En la mayoría de los casos es mortal durante los primeros meses de vida. La biopsia pulmonar revela cambios característicos de la proteinosis alveolar pulmonar, incluyendo fibrosis e inflamación intersticiales, así como acúmulo de material granular proteico, eosinofílico y rico en lípidos, consistente en neumocitos tipo II descamados y macrófagos espumosos dentro de los espacios aéreos alveolares."},"it":{"name":"Sindrome da distress respiratorio neonatale acuto da deficit di SP-B","synonyms":["Distress respiratorio acuto neonatale con deficit della proteina B del surfattante"],"definition":"Si tratta di una pneumopatia interstiziale genetica rara, caratterizzata da distress respiratorio progressivo e refrattario, potenzialmente letale, che insorge nei neonati a termine, associato al deficit della proteina B del surfattante. Nella maggior parte dei casi, la malattia è letale nei primi mesi di vita. La biopsia polmonare evidenzia le alterazioni caratteristiche della proteinosi alveolare polmonare con fibrosi e infiammazione interstiziale, e l'accumulo di materiale granulare ricco di lipidi, eosinofilo e proteico, costituito da pneumociti di tipo II desquamati e da macrofagi schiumosi all'interno degli spazi alveolari."},"nl":{"name":"Neonataal 'acute respiratory distress'-syndroom door SP-B-deficiëntie","synonyms":["Neonataal 'acute respiratory distress'-syndroom door deficiëntie van surfactantproteïne B","Neonataal acuut respiratoir distress syndroom door SP-B-deficiëntie","Neonataal 'acute respiratory distress syndrome' door SP-B-deficiëntie","Neonataal ARDS door SP-B-deficiëntie"],"definition":"Een zeldzame genetische interstitiële longziekte, gekenmerkt door progressieve en levensbedreigende refractaire ademnood veroorzaakt door deficiëntie van surfactant dat vooral veel voorkomt in onrijpe longen. Het wordt hoofdzakelijk waargenomen bij premature baby's maar kan ook voldragen neonaten treffen. In de meeste gevallen is de ziekte fataal binnen de eerste levensmaanden. Biopsie van long toont veranderingen die kenmerkend zijn voor pulmonale alveolaire proteïnose, waaronder interstitiële fibrose en inflammatie, alsook accumulatie van lipidenrijk, eosinofiel, eiwitachtig, granulair materiaal bestaande uit afgeschilferde type II pneumocyten en schuimige macrofagen in met lucht gevulde alveolaire ruimtes."},"pt":{"name":"Dificuldade respiratória aguda neonatal por deficiência de SP-B","synonyms":["Dificuldade respiratória aguda neonatal por deficiência no metabolismo do surfactante"]},"pl":{"name":"Zespół ostrej niewydolności oddechowej noworodków","synonyms":["Ostra niewydolność oddechowa noworodków spowodowanan niedoborem białka B surfaktantu"]},"cs":{"name":"Syndrom akutní dechové tísně novorozenců způsobený deficitem SP-B","synonyms":["Syndrom akutní dechové tísně novorozenců způsobený deficitem surfaktantového proteinu B"]},"uk":{"name":"Гострий респіраторний дистрес у новонароджених внаслідок дефіциту SP-B","synonyms":["Гострий респіраторний дистрес у новонароджених внаслідок дефіциту сурфактантного протеїну В"],"definition":"A rare genetic interstitial lung disease characterized by progressive, life-threatening, refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases, the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces."},"zh":{"name":"SP-B缺陷所致新生儿急性呼吸窘迫","synonyms":["表面活化蛋白B缺陷所致新生儿急性呼吸窘迫"]},"tr":{"name":"SP-B eksikliğine bağlı Yenidoğan akut solunum sıkıntısı","synonyms":["Sürfaktan protein B eksikliğine bağlı yenidoğan akut solunum sıkıntısı"]}},"xrefs":[{"source":"OMIM","code":"265120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P28.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"CB04.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"577794252"},{"source":"MONDO","code":"0009929","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1968602","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","classifications":[156,184,233]}],"children":[],"genes":[{"symbol":"SFTPB","name":"surfactant protein B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23330012[PMID]","hgnc":"10801","ensembl":"ENSG00000168878","omim":"178640","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.067,"area":"Worldwide","status":"Validated","source":"14977415[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-14","source":"10960490[PMID]_12784301[PMID]_17391469[PMID]_19220077[PMID]","terms":[{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006517","label":"Intraalveolar phospholipid accumulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031457","label":"Pulmonary opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004876","label":"Spontaneous neonatal pneumothorax","frequency":"Occasional (29-5%)","criteria":null}]}}