{"orpha":217566,"name":"Chronic respiratory distress with surfactant metabolism deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217566/","orphanet_url":"https://www.orpha.net/en/disease/detail/217566","names":{"fr":{"name":"Détresse respiratoire chronique avec déficit du métabolisme du surfactant","definition":"Pneumopathie interstitielle primaire rare d'origine génétique, caractérisée par une présentation clinique très variable, allant d'un syndrome de détresse respiratoire du nouveau-né à une pneumopathie interstitielle légère à sévère (dont les symptômes typiques sont toux, tachypnée, hypoxie, hippocratisme digital, râles crépitants et retard de croissance). La biopsie pulmonaire révèle des lésions alvéolaires diffuses, un épaississement interstitiel avec infiltrats inflammatoires, une prolifération de fibroblastes, des dépôts de collagène et de nombreux foyers de fibrose, une hyperplasie des cellules alvéolaires de type II, des macrophages alvéolaires spumeux abondants et du matériel lipoprotéique granulaire dans la lumière alvéolaire. L'imagerie met en évidence des espaces kystiques et des opacités en verre dépoli, généralement de diffusion homogène."},"de":{"name":"Chronische Atemnot mit Stoffwechseldefekt des Surfactant-Systems"},"es":{"name":"Dificultad respiratoria crónica con deficiencia del metabolismo del surfactante","synonyms":["Distrés respiratorio crónico con deficiencia del metabolismo del surfactante"],"definition":"Es una enfermedad pulmonar intersticial primaria poco frecuente de origen genético con una presentación clínica muy variable, variando desde el síndrome de insuficiencia respiratoria neonatal hasta enfermedad pulmonar intersticial de leve a grave (los síntomas típicos incluyen tos, taquipnea, hipoxia, acropaquia, crepitantes, fallo de medro). La biopsia pulmonar revela daño alveolar difuso, engrosamiento intersticial con infiltrados inflamatorios, proliferación de fibroblastos, depósitos de colágeno y fibrosis multifocal, hiperplasia celular alveolar de neumocitos tipo II, abundantes macrófagos alveolares espumosos y material lipoproteico granular en el lumen alveolar. Los estudios de imagen muestran espacios quísticos y opacidades en vidrio esmerilado, por lo general, homogéneamente difusas."},"it":{"name":"Distress respiratorio cronico con deficit del metabolismo del surfattante","definition":"Il distress respiratorio cronico con deficit del metabolismo del surfattante è una pneumopatia interstiziale primitiva rara di origine genetica. Il quadro clinico è molto variabile e comprende la sindrome da distress respiratorio neonatale e le pneumopatie interstiziali lievi-gravi. I segni clinici caratteristici comprendono la tosse, la tachipnea, l'ipossia, l'ippocratismo, i rantoli e il ritardo della crescita. La biopsia polmonare evidenzia danno alveolare diffuso, ispessimento interstiziale con infiltrati infiammatori, proliferazione dei fibroblasti, depositi di collagene, foci multipli di fibrosi, iperplasia delle cellule di tipo II negli alveoli, abbondanti macrofagi alveolari schiumosi e materiale lipoproteico granulare nel lume degli alveoli. Le immagini diagnostiche evidenziano spazi cistici e opacità a vetro smerigliato di solito distribuite in maniera omogena."},"nl":{"name":"Chronische ademhalingsnood met deficiëntie van surfactantmetabolisme","definition":"Chronische ademnood met oppervlakteactieve stofwisselingsdeficiëntie is een zeldzame, genetische, primaire interstitiële longziekte met een zeer variabel klinisch beeld, gaande van neonataal ademnoodsyndroom tot milde tot ernstige interstitiële longziekte (typische symptomen zijn onder meer hoest, tachypnoe, hypoxie, trommelstokvingers, ademgeruis, groeiachterstand). Longbiopsie toont diffuse schade aan longblaasjes, interstitiële verdikking met inflammatoire infiltraten, proliferatie van fibroblasten, afzetting van collageen, en meerdere gebieden met fibrose, hyperplasie van type II alveolaire cellen, overvloedige alveolaire schuimmacrofagen en granulair lipoproteïnemateriaal in het alveolaire lumen. Beeldvorming toont cystische ruimtes en matglas opaciteiten die doorgaans homogeen diffuus zijn."},"pt":{"name":"Dificuldade respiratória crónica com deficiência no metabolismo do surfactante"},"pl":{"name":"Przewlekła niewydolność oddechowa z zaburzeniem metabolizmu surfaktantu"},"cs":{"name":"Syndrom chronické dechové tísně s deficitem metabolismu surfaktantu"},"uk":{"name":"Хронічний респіраторний дистрес з недостатністю метаболізму сурфактантів","definition":"Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse."},"zh":{"name":"慢性呼吸窘迫伴表面活性物质代谢缺陷","definition":"慢性呼吸窘迫伴表面活性物质代谢缺乏是一种罕见的遗传性原发性间质性肺病，临床表现多变，从新生儿呼吸窘迫综合征到轻至重度间质性肺病（典型症状包括咳嗽、呼吸急促、缺氧、杵状指、啰音、体重增长不良）。肺活检显示弥漫性肺泡损伤，间质增厚伴炎性浸润，成纤维细胞增生，胶原沉积，多发性纤维化灶，肺泡Ⅱ型细胞增生，肺泡内有大量泡沫状巨噬细胞和颗粒状脂蛋白物质。影像学表现为囊性空腔和典型的均匀弥漫的毛玻璃状混浊。"},"tr":{"name":"Sürfaktan metabolizması eksikliği ile seyreden kronik solunum sıkıntısı"}},"xrefs":[{"source":"OMIM","code":"610913","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1209799865"},{"source":"MONDO","code":"0016323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190853","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":264930,"name":"Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder","classifications":[184,233]}],"children":[],"genes":[{"symbol":"SFTPC","name":"surfactant protein C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22018035[PMID]_20403820[PMID]","hgnc":"10802","ensembl":"ENSG00000168484","omim":"178620","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[],"phenotypes":null}