Goodpasture syndrome

Información en español Title

Other Names:

Rapidly progressive glomerulonephritis with pulmonary hemorrhage; Anti-glomerular basement membrane antibody disease; Glomerulonephritis - pulmonary hemorrhage; Rapidly progressive glomerulonephritis with pulmonary hemorrhage; Anti-glomerular basement membrane antibody disease; Glomerulonephritis - pulmonary hemorrhage; Pulmonary renal syndrome See More

Categories:

Blood Diseases; Kidney and Urinary Diseases; Lung Diseases

Summary Summary

Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term "Goodpasture syndrome" for the findings of glomerulonephritis and pulmonary hemorrhage and the term "Goodpasture disease" for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies.^[1]^[2] Currently, the preferred term for both conditions is “anti-GBM antibody disease”.^[3] Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.^[1]^[2]^[3]^[4]

Last updated: 3/28/2017

Symptoms Symptoms

The signs and symptoms related to the lung disease may include:^[2]

Bleeding from the nose (hemoptysis), which occur before the kidney disease in 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)
Edema

Prompt diagnosis of pulmonary hemorrhage is vital because it is the principal cause of early death in patients with anti-GBM antibody disease.

The signs and symptoms related to the kidney disease may include:^[2]

Blood in urine (hematuria)
Protein in 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)

Last updated: 3/28/2017

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.

Showing of 23 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Anemia	Low number of red blood cells or hemoglobin	0001903
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Chest pain		0100749
Cough	Coughing	0012735
Glomerulopathy		0100820
Hemoptysis	Coughing up blood	0002105
Persistence of primary teeth	Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ]	0006335
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Pulmonary infiltrates	Lung infiltrates	0002113
Respiratory insufficiency	Respiratory impairment	0002093
Vasculitis	Inflammation of blood vessel	0002633
30%-79% of people have these symptoms
Hematuria	Blood in urine	0000790
5%-29% of people have these symptoms
Arthralgia	Joint pain	0002829
Arthritis	Joint inflammation	0001369
Fever		0001945
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Purpura	Red or purple spots on the skin	0000979
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Retinal detachment	Detached retina	0000541
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Dyspnea	Trouble breathing	0002094
Glomerulonephritis		0000099
Pulmonary hemorrhage		0040223

Showing of 23 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

There is still much to learn about the cause of Goodpasture syndrome. It is thought that a combination of genetic and environmental factors, such as cigarette smoke, inhaled hydrocarbons, and viruses play a role in the development of this autoimmune condition.^[1]

In autoimmune disorders, the body makes antibodies that attacks its own tissues. In the case of Goodpasture syndrome, antibodies form against a certain type of protein called collagen. Collagen is present in many tissues in the body. In Goodpasture syndrome, collagen in the alveoli (tiny air sacs in the lungs) and in the glomeruli (the filtering units of the kidney) is attacked. This leads to bleeding in the air sacs and inflammation in the glomeruli of the kidney. Symptoms of the antibody attack may include shortness of breath, cough, bloody sputum, blood and protein in the urine, and kidney failure.^[5]

Genetic predisposition to Goodpasture syndrome involves the human leukocyte antigen (HLA) system. The HLA system is involved in helping our immune system know the difference between "self" and "non-self." Human leukocyte antigens determine a person's tissue type. Each person has 3 pairs of major HLA antigens. We inherit one set from each of our parents (and pass one of our two sets on to each of our children).^[6]

Below we have provided some facts regarding HLA antigens and Goodpasture syndrome:^[1]

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 prognosis.
HLA antigen types HLA-DR7 and HLA-DR1 are thought to confer some protection against developing Goodpasture syndrome.

Last updated: 3/28/2017

Diagnosis Diagnosis

A diagnosis of anti-GBM antibody disease is made when a patient presents with lung hemorrhage, urinary findings such as proteinuria (protein in the urine) and hematuria (blood in the urine), and circulating anti–glomerular basement membrane (anti-GBM) antibodies.^[1]

A kidney biopsy is the best method for detecting anti-GBM antibodies in tissues. Some recommend doing a kidney biopsy in all cases while others suggest only doing the biopsy when the diagnosis is still in doubt. Light microscopy usually shows a feature known as crescentic glomerulonephritis, whereas immunofluorescence microscopy demonstrates a finding that is characteristic of this disease, of “linear deposition of IgG along the glomerular capillaries”. Patients in whom the diagnosis of lung hemorrhage is still unclear should have bronchoscopy.^[1]

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.^[2]

It is essential to promptly diagnose pulmonary hemorrhage because this is the principal cause of early death when untreated.^[1]^[2]

Conditions that affect the lung and kidney (pulmonary-renal syndromes) are important to consider and need to be ruled out when the diagnosis is not confirmed. These include granulomatosis with polyangiitis (Wegener granulomatosis), Churg-Strauss syndrome, systemic lupus erythematosus, microscopic polyangiitis, rheumathoid arthritis, IgA-mediated disorders (eg, IgA nephropathy or Henoch-Schönlein purpura) and of immune complex–mediated renal disease (eg, essential mixed cryoglobulinemia), community-acquired pneumonia and undifferentiated connective-tissue disease.[2] In children, other diseases that also need to be ruled out are Behcet Syndrome, hemosiderosis (bleeding into the lung and iron accumulation) and Legionella infection.^[2]

See an image of the kidney and glomerulus.

Last updated: 3/28/2017

Treatment Treatment

The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. The three main goals for the treatment are:^[1]^[2]^[3]

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, dialysis is continued indefinitely and the patient should be referred for kidney transplantation.

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.^[2]

Last updated: 3/28/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations 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

American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
Toll-free: 800-638-8299
Telephone: 301-881-3052
E-mail: helpline@kidneyfund.org
Website: http://www.kidneyfund.org
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: info@kidney.org
Website: https://www.kidney.org/
The Kidney Foundation of Canada
700-15 Gervais Drive
Toronto Ontario M3C 1Y8
Canada
Toll-free: 800-387-4474
Telephone: 416-445-0373
Fax: 416-445-7440
E-mail: kidney@kidney.on.ca
Website: http://www.kidney.on.ca

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? We want to hear from you.

Learn More 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 Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (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.

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 Goodpasture syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.