Rare Nephrology News

Disease Profile

Aspergillosis

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.

Unknown

Age of onset

All ages

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ICD-10

B44.0 B44.1 B44.2 B44.7 B44.8 B44.9

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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Categories

Fungal infections

Summary

Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus.[1] There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue.[2][1] Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body.[2][1] Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain).[3] Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis.[1] This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.[3]

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
80%-99% of people have these symptoms
Cough
Coughing
0012735
Positive blood 1,3 beta glucan test
0020153
30%-79% of people have these symptoms
Abnormality on pulmonary function testing
0030878
Chest pain
0100749
Chronic lung disease
0006528
Eosinophilia
High blood eosinophil count
0001880
Fever
0001945
Ground-glass opacification on pulmonary HRCT
0025179
Hemoptysis
Coughing up blood
0002105
Immunodeficiency
Decreased immune function
0002721
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Parenchymal consolidation
0032177
5%-29% of people have these symptoms
Abnormal esophagus morphology
Abnormality of esophagus structure
0002031
Abnormality of the kidney
Abnormal kidney
0000077
Asthma
0002099
Chronic pulmonary obstruction
0006510
Dacryocystitis
0000620
Diffuse reticular or finely nodular infiltrations
0002207
Dyspnea
Trouble breathing
0002094
Headache
Headaches
0002315
Hematological neoplasm
0004377
Hepatitis
Liver inflammation
0012115
Hypersensitivity pneumonitis
0006516
Increased circulating IgE level
0003212
Invasive pulmonary aspergillosis
0020103
Keratitis
Corneal inflammation
0000491
Localized skin lesion
0011355
Nasal obstruction
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose

[ more ]

0001742
Ocular pain
Eye pain
0200026
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Pneumonia
0002090
Pulmonary fibrosis
0002206
Rhinorrhea
Runny Nose
0031417
Sinusitis
Sinus inflammation
0000246
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
1%-4% of people have these symptoms
Abnormality of long bone morphology
Abnormal shape of long bone
0011314
Abnormality of the ribs
Rib abnormalities
0000772
Abnormality of the skull base
0002693
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine

[ more ]

0000925
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Encephalitis
Brain inflammation
0002383
Functional motor deficit
0004302
Intracranial hemorrhage
Bleeding within the skull
0002170
Meningitis
0001287
Osteomyelitis
Bone infection
0002754
Periorbital fullness
Puffiness around eye
0000629
Pleural effusion
Fluid around lungs
0002202
Seizure
0001250
Stroke
0001297
Vitritis
0011531

Treatment

If the infection is widespread or the person appears seriously ill, treatment is started immediately.[3] Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously.[2][1] There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased.[2][3]

A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.[1]

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

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

    • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
    • 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 Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
    • 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.
      • 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 Aspergillosis. Click on the link to view a sample search on this topic.

        References

        1. Aspergillosis. MedlinePlus. June 9, 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001326.htm. Accessed 10/2/2013.
        2. Aspergillosis (Aspergillus). Centers for Disease Control and Prevention (CDC). May 6, 2013; https://www.cdc.gov/fungal/diseases/aspergillosis/index.html. Accessed 10/2/2013.
        3. Aspergillosis. Merck Manuals Online Medical Library. October 2008; https://www.merck.com/mmhe/sec17/ch197/ch197b.html. Accessed 10/2/2013.

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