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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Other Names (AKA)
Rapidly progressive glomerulonephritis with pulmonary hemorrhage; Anti-glomerular basement membrane antibody disease; Glomerulonephritis pulmonary hemorrhage;
Blood Diseases; Kidney and Urinary Diseases; Lung Diseases
- Bleeding from the nose (hemoptysis), which occur before the
kidney diseasein about two thirds of cases and is present in 82%-90% of the adults
- Cough (40%-60% of the cases)
- Breathing difficulty (dyspnea) in about 57%-72% of the cases
- Pallor (the most common clinical sign)
- Crackles and rhonchi (low-pitched, rattling sound)
- Heart murmur (20-25% of the cases)
- Enlarged liver (hepatomegaly)
Prompt diagnosis of pulmonary hemorrhage is vital because it is the principal cause of early death in patients with anti-GBM
The signs and symptoms related to the kidney disease may include:
- Blood in urine (hematuria)
Proteinin urine ( proteinuria)
- Abnormal kidney function
Hypertension(high blood pressure) can be present but is not very common (reported in 4-17% of adult patients and very rare in children)
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||
|80%-99% of people have these symptoms|
Low number of red blood cells or hemoglobin
[ more ]
Coughing up blood
|Persistence of primary teeth||
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
High urine protein levels
Protein in urine
[ more ]
Inflammation of blood vessel
|30%-79% of people have these symptoms|
Blood in urine
|5%-29% of people have these symptoms|
[ more ]
Red or purple spots on the skin
Renal failure in adulthood
[ more ]
|1%-4% of people have these symptoms|
|Cytoplasmic antineutrophil antibody positivity||0032230|
|Percent of people who have these symptoms is not available through HPO|
|Anti-glomerular basement membrane-antibody positivity||0033030|
In autoimmune disorders, the body makes
Below we have provided some facts regarding HLA antigens and Goodpasture syndrome:
- A certain HLA antigen, HLA-DR15 (previously known as HLA-DR2), is found in 88% of patients with Goodpasture syndrome, as compared to 25-32% of those without it.
- People with Goodpasture syndrome who have two types of HLA antigens: HLA-B8 and HLA-DR2 tend to have a worse
- HLA antigen types HLA-DR7 and HLA-DR1 are thought to confer some protection against developing Goodpasture syndrome.
In children, the most consistent feature is ‘crescentic glomerulonephritis’ with either circulating anti-GBM antibodies or linear staining of IgG on the immunofluorescence. Clinical features include severe kidney malfunction in all patients and lung hemorrhage in half of them.
Conditions that affect the lung and kidney (pulmonary-renal
- Rapidly remove circulating
antibody, primarily by plasmapheresis.
- Stop further production of antibodies using immunosuppression with medications, namely,
corticosteroids(e.g., prednisone) and cyclophosphamide. In children, plasmapheresis is done together with corticosteroids and cyclophosphamide. The duration of the immunosuppressive treatment varies but is typically 6 months for corticosteroids and 3 months for cyclophosphamide.
- Remove offending agents that may have initiated the antibody production.
After hospital discharge, patients require long-term regular visits for monitoring kidney function and for immunosuppressive therapy. If kidney function does not return,
If the person smokes, it is recommended he or she stop. Also, if the patient is exposed to hydrocarbon in his or her occupation, he or she should consider changing jobs, as exposure to hydrocarbon has been shown to increase a person's chances of disease recurrence.
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.
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
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.
- 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 Kidney and Urologic Diseases Information Clearinghouse (NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
- The National Kidney Foundation, Inc. offers an information page on Goodpasture syndrome.
- 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.
- 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 Goodpasture syndrome. Click on the link to view a sample search on this topic.
- Valentini RP. Pediatric Anti-GBM Disease (Goodpasture Syndrome). Medscape Reference. March 5, 2015; https://www.emedicine.com/ped/TOPIC888.HTM.
- Kathuria P. Goodpasture Syndrome. Mescape Reference. 2016; https://emedicine.medscape.com/article/240556-overview.
- Anti-Glomerular Basement Membrane Disease. Medical Subject Headings. 2008; https://id.nlm.nih.gov/mesh/D019867.html.
- Pusey CD & Kalluri R. Pathogenesis and diagnosis of anti-GBM antibody (Goodpasture's) disease. UpToDate. January 13, 2016; https://www.uptodate.com/contents/pathogenesis-and-diagnosis-of-anti-gbm-antibody-goodpastures-disease.
- Goodpasture syndrome. MedlinePlus. 9/22/2015; https://www.nlm.nih.gov/medlineplus/ency/article/000142.htm.
- Stem Cell Transplant for Cancer. American Cancer Society. 5/11/2016; https://www.cancer.org/acs/groups/cid/documents/webcontent/003215-pdf.pdf.