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Disease Profile

Congenital pulmonary alveolar proteinosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

J84.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Pulmonary alveolar proteinosis, congenital; Congenital PAP

Categories

Congenital and Genetic Diseases; Immune System Diseases; Lung Diseases

Summary

Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth.[1] In this condition, a substance made up of fat and protein (surfactant) builds up in the air sacs (alveoli) of the lungs, making breathing difficult.[1] Symptoms typically begin the newborn period and get worse over time. 

Congenital pulmonary alveolar proteinosis is caused by genetic changes (mutations) in one of several different genes. It is inherited in either an autosomal dominant, autosomal recessive or X-linked recessive pattern depending on the gene involved. If the gene involved is the ABCA3 gene, the CSF2RB gene, or the SFTPB gene, inheritance is autosomal recessive. If the gene involved is the SFTPC gene, inheritance is autosomal dominant. If the gene involved is the CSF2RA gene, inheritance is X-linked recessive.[2] 

Congenital pulmonary alveolar proteinosis is diagnosed based on the symptoms, imaging studies and genetic testing. Treatment is difficult and can involve washing out the lungs (bronchoalveolar lavage) or lung transplant. Infants may be put on an artificial breathing machine. Without treatment, this condition may be fatal within a few months of life. Congenital pulmonary alveolar proteinosis is rare and occurs in about 1 in 1.5 million births.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Crazy paving pattern on pulmonary HRCT
0025391
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Hypoxemia
Low blood oxygen level
0012418
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Respiratory failure requiring assisted ventilation
0004887
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
5%-29% of people have these symptoms
Acute infectious pneumonia
0011949
Autoimmune antibody positivity
0030057
Cough
Coughing
0012735
Crackles
0030830
Elevated carcinoembryonic antigen level
0031029
Foam cells
0003651
Tachycardia
Fast heart rate
Heart racing
Racing heart

[ more ]

0001649
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Percent of people who have these symptoms is not available through HPO
Abnormal pulmonary Interstitial morphology
Abnormality in area between air sacs in lung
0006530
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Apnea
0002104
Autosomal recessive inheritance
0000007
Clubbing
Clubbing of fingers and toes
0001217
Cyanosis
Blue discoloration of the skin
0000961
Desquamative interstitial pneumonitis
0005942
Dyspnea
Trouble breathing
0002094
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intraalveolar phospholipid accumulation
0006517
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Rapidly progressive
Worsening quickly
0003678
Respiratory failure
0002878

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital pulmonary alveolar proteinosis. Click on the link to view a sample search on this topic.

        References

        1. Blaivas AJ. Pulmonary alveolar proteinosis. MedlinePlus. Updated 5/21/2017; https://www.nlm.nih.gov/medlineplus/ency/article/000114.htm.
        2. Alavuk Kundovic S, Popovic L. Congenital pulmonary alveolar proteinosis: From birth to ten-years of age. Ind Jl of Ped. Sept 2017; 84(9):721-723. https://www.ncbi.nlm.nih.gov/pubmed/28512724.