Pulmonary alveolar proteinosis, acquired

Preferred Label : Pulmonary alveolar proteinosis, acquired;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pulmonary alveolar lipoproteinosis, acquired; Pulmonary alveolar proteinosis, autoimmune; Pap, acquired;

Description : Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency.;

Inheritance : Isolated cases;

Laboratory abnormalities : Hypoxemia; Polycythemia;

Prefixed ID : %610910;

Details

Origin ID

610910;

UMLS CUI

C1970472;

Automatic exact mappings (from CISMeF team)
- Autoimmune pulmonary alveolar proteinosis [ORDO Disease]
- Autoimmune pulmonary alveolar proteinosis [ICD-11 More detail]
- Autoimmune pulmonary alveolar proteinosis [MedDRA LLT]
- Autoimmune pulmonary alveolar proteinosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- pulmonary alveolar proteinosis, acquired [MeSH concept]
- pulmonary alveolar proteinosis, acquired [MeSH Supplementary Concept]
HPO term(s)
- Anti-granulocyte-macrophage colony stimulating factor antibody positivity [HPO term]
- Brain abscess [HPO term]
- Chest pain [HPO term]
- Clubbing [HPO term]
- Cough [HPO term]
- Cyanosis [HPO term]
- Decreased DLCO [HPO term]
- Dyspnea [HPO term]
- Hemoptysis [HPO term]
- Hypoxemia [HPO term]
- Insidious onset [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Isolated cases [HPO term]
- Lung abscess [HPO term]
- Pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Restrictive ventilatory defect [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Autoimmune pulmonary alveolar proteinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Pulmonary Alveolar Proteinosis [NCIt concept]
- Autoimmune pulmonary alveolar proteinosis [ORDO Disease]
- Autoimmune pulmonary alveolar proteinosis [MedDRA LLT]
- Autoimmune pulmonary alveolar proteinosis (disorder) [SNOMED CT concept]
- pulmonary alveolar proteinosis, acquired [MeSH Supplementary Concept]
- pulmonary alveolar proteinosis, acquired [MeSH concept]

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