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Disease Profile

Diffuse panbronchiolitis

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

Adult

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ICD-10

J44.8

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)

Panbronchiolitis, diffuse; PBLT; DPB

Categories

Lung Diseases

Summary

Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive over months to years. Common symptoms include chronic sinusitis, a productive cough (producing mucus), breathlessness with exertion, wheezing, and weight loss (especially as symptoms worsen). The exact cause of DPB is not known, but a variety of genetic, environmental, and systemic factors appear to contribute to the condition. Treatment involves long-term use of macrolide antibiotics, which reportedly dramatically improves the long-term outcome. If untreated, DPB leads to bronchiectasis, progressive respiratory failure and death over the course of a few years.[1]

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
Percent of people who have these symptoms is not available through HPO
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Cough
Coughing
0012735
Crackles
0030830
Foam cells
0003651
Hypoxemia
Low blood oxygen level
0012418
Progressive
Worsens with time
0003676
Rhonchi
0030831
Wheezing
0030828

Treatment

The main treatment that has been recommended for diffuse panbronchiolitis (DPB) is the use of macrolide antibiotics.[2] Erythromycin is typically the first drug of choice.[1] A different macrolide antibiotic may be used if erythromycin is not well-tolerated or if a person doesn't improve after several weeks of therapy.[1]

The best duration of macrolide therapy is not known, but most patients are treated for a minimum of six months. Therapy is continued until symptoms, imaging findings, and lung function measurements are improved or stable. In the majority of patients, therapy is stopped after two years. However, in patients with advanced disease, therapy is continued indefinitely.[1]

Other therapies, such as bronchodilator medications and bronchial hygiene (airway clearance techniques), may be useful for some people.[1]

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 Providing General Support

    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.

    In-Depth Information

    • 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 Diffuse panbronchiolitis. Click on the link to view a sample search on this topic.

      References

      1. Talmadge E King, Jr. Diffuse panbronchiolitis. UpToDate. Waltham, MA: UpToDate; July, 2016;
      2. Lin X, Lu J, Yang M, Dong BR, Wu HM. Macrolides for diffuse panbronchiolitis. Cochrane Database Syst Rev. January, 2015; 1:

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