Goodpasture syndrome

"Goodpasture" redirects here. For other uses, see Goodpasture (disambiguation).

Rare autoimmune disease

Goodpasture syndrome
Synonyms	Goodpasture’s disease, antiglomerular basement antibody disease, anti-GBM disease
Pronounce
Field
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths

antibody image

Goodpasture syndrome (GPS), also known as anti-glomerular basement membrane disease, is a rare autoimmune disease in which antibodies attack the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.<ref>Thibaud, V.,

 Recurrence of Goodpasture syndrome without circulating anti-glomerular basement membrane antibodies after kidney transplant, a case report, 
 BMC Nephrology, 
 
 Vol. 20(Issue: 1),
 pp. 6,
 DOI: 10.1186/s12882-018-1197-6,
 PMID: 30621605,
 PMC: 6323659,
 
 Full text,</ref> It is thought to attack the alpha-3 subunit of type IV collagen, which has therefore been referred to as Goodpasture's antigen.<ref>

COL4A3 gene(link). {{{website}}}.

</ref> Goodpasture syndrome may quickly result in permanent lung and kidney damage, often leading to death. It is treated with medications that suppress the immune system such as corticosteroids and cyclophosphamide, and with plasmapheresis, in which the antibodies are removed from the blood.

The disease was first described by an American pathologist Ernest Goodpasture of Vanderbilt University in 1919 and was later named in his honor.<ref>Goodpasture EW,

 The significance of certain pulmonary lesions in relation to the etiology of influenza, 
 Am J Med Sci, 
 1919,
 Vol. 158(Issue: 6),
 pp. 863–870,
 DOI: 10.1097/00000441-191911000-00012,
 
 
 
 Full text,</ref><ref>, 
 Goodpasture's disease, 
 Lancet, 
 
 Vol. 358(Issue: 9285),
 pp. 917–920,
 DOI: 10.1016/S0140-6736(01)06077-9,
 PMID: 11567730,</ref>

Signs and symptoms

The antiglomerular basement membrane (GBM) antibodies primarily attack the kidneys and lungs, although, generalized symptoms like malaise, weight loss, fatigue, fever, and chills are also common, as are joint aches and pains.<ref name = PMSR>

Goodpasture Syndrome Clinical Presentation(link). {{{website}}}. WebMD. 21 May 2013.

</ref> 60 to 80% of those with the condition experience both lung and kidney involvement; 20-40% have kidney involvement alone, and less than 10% have lung involvement alone.<ref name = PMSR/> Lung symptoms usually antedate kidney symptoms and usually include: coughing up blood, chest pain (in less than 50% of cases overall), cough, and shortness of breath.<ref name = MM> Schwarz, MI. Goodpasture Syndrome: Diffuse Alveolar Hemorrhage and Pulmonary-Renal Syndrome(link). {{{website}}}.

November 2013.

</ref> Kidney symptoms usually include blood in the urine, protein in the urine, unexplained swelling of limbs or face, high amounts of urea in the blood, and high blood pressure.<ref name = PMSR/>

Cause

Its precise cause is unknown, but an insult to the blood vessels taking blood from and to the lungs is believed to be required to allow the anti-GBM antibodies to come into contact with the alveoli.<ref name = MSR>

Goodpasture Syndrome(link). {{{website}}}. WebMD. 21 May 2013.

</ref> Examples of such an insult include:<ref name = MSR/> exposure to organic solvents (e.g. chloroform) or hydrocarbons, exposure to tobacco smoke, certain alleles (HLA-DR15), infection (such as influenza A), cocaine inhalation, metal dust inhalation, bacteraemia, sepsis, high-oxygen environments, and treatment with antilymphocytic treatment (especially monoclonal antibodies).

Pathophysiology

GPS is caused by abnormal plasma cell production of anti-GBM antibodies.<ref name = MSR/> The anti-GBM antibodies attack the alveoli and glomeruli basement membranes.<ref name = MSR/> These antibodies bind their reactive epitopes to the basement membranes and activate the complement cascade, leading to the death of tagged cells.<ref name = MSR/> T cells are also implicated, though it is generally considered a type II hypersensitivity reaction.<ref name = MSR/>

Diagnosis

The diagnosis of GPS is often difficult, as numerous other diseases can cause the various manifestations of the condition and the condition itself is rare.<ref name = WMSR>

Goodpasture Syndrome Workup(link). {{{website}}}. WebMD. 21 May 2013.

</ref> The most accurate means of achieving the diagnosis is testing the affected tissues by means of a biopsy, especially the kidney, as it is the best-studied organ for obtaining a sample for the presence of anti-GBM antibodies.<ref name = WMSR/> On top of the anti-GBM antibodies implicated in the disease, about one in three of those affected also has cytoplasmic antineutrophilic antibodies in their bloodstream, which often predates the anti-GBM antibodies by about a few months or even years.<ref name = WMSR/> The later the disease is diagnosed, the worse the outcome is for the affected person.<ref name = MSR/>

Treatment

The major mainstay of treatment for GPS is plasmapheresis, a procedure in which the affected person's blood is sent through a centrifuge and the various components separated based on weight.<ref name = TMSR/> The plasma contains the anti-GBM antibodies that attack the affected person's lungs and kidneys, and is filtered out.<ref name = TMSR/> The other parts of the blood (the red blood cells, white blood cells, and platelets) are recycled and intravenously reinfused.<ref name = TMSR>

Goodpasture Syndrome Treatment & Management(link). {{{website}}}. WebMD. 21 May 2013.

</ref> Most individuals affected by the disease also need to be treated with immunosuppressant drugs, especially cyclophosphamide, prednisone, and rituximab, to prevent the formation of new anti-GBM antibodies so as to prevent further damage to the kidneys and lungs.<ref name = TMSR/> Other, less toxic immunosuppressants such as azathioprine may be used to maintain remission.<ref name = TMSR/>

Prognosis

With treatment, the five-year survival rate is >80% and fewer than 30% of affected individuals require long-term dialysis.<ref name = MSR/> A study performed in Australia and New Zealand demonstrated that in patients requiring renal replacement therapy (including dialysis) the median survival time is 5.93 years.<ref name = MSR/> Without treatment, virtually every affected person will die from either advanced kidney failure or lung hemorrhages.<ref name = MSR/>

Epidemiology

GPS is rare, affecting about 0.5–1.8 per million people per year in Europe and Asia.<ref name = MSR/> It is also unusual among autoimmune diseases in that it is more common in males than in females and is also less common in blacks than whites, but more common in the Māori people of New Zealand.<ref name = MSR/> The peak age ranges for the onset of the disease are 20–30 and 60–70 years.<ref name = MSR/>

See also

• HLA-DR § DR2
• Pulmonary-renal syndrome

External links

• GBM antibodies: immunofluorescence image

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