{"orpha":723,"name":"Pneumocystosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus <i>Pneumocystis jiroveci</i>. The prevalence is unknown. <i>Pneumocystis jiroveci</i> is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-723/","orphanet_url":"https://www.orpha.net/en/disease/detail/723","names":{"fr":{"name":"Pneumocystose","definition":"La pneumocytose humaine est causée par un agent infectieux, <i>Pneumocystis jiroveci</i>, aujourd'hui classé dans les champignons (après révision récente de sa position taxonomique et de sa nomenclature). La prévalence de l'affection est inconnue. <i>Pneumocystis jiroveci</i> est l'agent d'une infection opportuniste qui ne se développe que chez les patients immunodéprimés. La contamination est aérienne et la localisation principale pulmonaire. Des localisations extrapulmonaires sont observées au cours du SIDA. La maladie s'installe progressivement avec une toux, une gêne respiratoire (dyspnée) et une fièvre aboutissant en quelques semaines à une insuffisance respiratoire aiguë mortelle sans traitement. La méthode diagnostique la plus performante est le lavage bronchiolo-alvéolaire. Le traitement de référence est le cotrimoxazole."},"de":{"name":"Pneumozystose"},"es":{"name":"Neumocistosis","definition":"La neumocistosis humana está causada por un agente infeccioso, que (de acuerdo a la nomenclatura y revisiones taxonómicas recientes) se ha clasificado como el hongo <i>Pneumocystis jiroveci</i>. La prevalencia es desconocida. <i>Pneumocystis jiroveci</i> es un agente infeccioso oportunista que se desarrolla en los pacientes inmunodeprimidos. Es una infección de transmisión aérea que se localiza en los pulmones. Sin embargo, en pacientes con SIDA se observa también una afectación extrapulmonar. La enfermedad se manifiesta progresivamente con tos, problemas respiratorios (disnea) y fiebre, seguida por una insuficiencia respiratoria aguda y fallecimiento en pocas semanas en casos no tratados. El método de diagnóstico más fiable es el lavado broncoalveolar. El tratamiento de elección es el cotrimoxazol."},"it":{"name":"Pneumocitosi"},"nl":{"name":"Pneumocystose","definition":"Humane pneumocystose wordt veroorzaakt door een infectieus agens, dat (na herziening van nomenclatuur en taxonomie) nu geclassificeerd wordt als de fungus <i>Pneumocystis jiroveci</i>. De prevalentie is niet gekend. <i>Pneumocystis jiroveci</i> is een opportunistisch infectieus agens, dat zich ontwikkelt bij patiënten met immuunsuppressie. De infectie wordt verspreid via de lucht, en situeert zich in de longen. Extrapulmonale betrokkenheid wordt echter waargenomen bij AIDS-patiënten. De ziekte manifesteert zich progressief met hoest, ademhalingsproblemen (dyspneu) en koorts, gevolgd door acute respiratoire insufficiëntie en overlijden binnen enkele weken in onbehandelde gevallen. De meest betrouwbare diagnostische methode is bronchoalveolaire lavage. De behandeling bij voorkeur is cotrimoxazol."},"pt":{"name":"Pneumocistose"},"pl":{"name":"Pneumocystoza"},"cs":{"name":"Pneumocystóza"},"uk":{"name":"Пневмоцистоз","definition":"Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus <i>Pneumocystis jiroveci</i>. The prevalence is unknown. <i>Pneumocystis jiroveci</i> is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole."},"zh":{"name":"肺孢子虫病"},"tr":{"name":"Pnömositoz"}},"xrefs":[{"source":"ICD-10","code":"B48.5+","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"J17.2*","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"1F2G","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"404370038"},{"source":"MONDO","code":"0019121","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779637","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4386","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035662","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":163591,"name":"Rare mycosis","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-15","source":"26281787[PMID]_16255399[PMID]_23209406[PMID]_29635251[PMID]","terms":[{"hpo":"HP:0011949","label":"Acute infectious pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020102","label":"Pneumocystis jirovecii pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011991","label":"Abnormal neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025395","label":"Combined cystic and ground-glass pattern on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031863","label":"Bloodstream infectious agent","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005948","label":"Multiple pulmonary cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032177","label":"Parenchymal consolidation","frequency":"Occasional (29-5%)","criteria":null}]}}