Renal amyloidosis is caused by abnormal proteins deposited in the kidneys, leading to kidney failure. It is often a symptom of systemic amyloidosis, which affects organs throughout the body. Hereditary forms are caused by mutations in a single protein and can lead to multiple organ failure.
The amyloid diseases are a group of diseases that have certain characteristics in common. The main feature of these diseases is the presence of abnormally shaped proteins. In renal amyloidosis, malformed proteins become deposited in the kidneys, causing progressive kidney disease and kidney failure. There are more than 20 known proteins that can cause amyloidosis. Most of these are associated with rare hereditary forms of the disease.
Protein structure is an essential aspect of protein function, to the extent that an abnormally structured protein will not function normally. All proteins have a three-dimensional structure dictated by the chemical interactions between different amino acids in the protein chain. The diseases of amyloidosis develop due to a genetic mutation, a disease such as lymphoma, chronic inflammation, or an environmental factor that causes one or more proteins to misfold. These mutated or misfolded proteins therefore cannot function normally. Furthermore, when these abnormally structured proteins accumulate, they are deposited in the spaces between cells, forming a matrix that progressively disrupts the function of healthy organs and tissues.
Renal amyloidosis does not generally occur on its own, but it is a common effect in people with systemic amyloidosis. The systemic form of the disease results in the deposition of abnormal proteins in organs and tissues throughout the body. When the kidneys are affected, the end result is kidney failure, which can only be treated with a kidney transplant. Renal amyloidosis often develops as part of an inherited syndrome. Familial renal amyloidosis is sometimes known as Ostertag amyloidosis, named after Berthold Ostertag, the physician who first characterized the disease in 1932.
All forms of hereditary renal amyloidosis are caused by mutations in a single protein. The most common type of renal amyloidosis is called transthyretin amyloidosis (TTR), and it occurs due to mutations in proteins such as lysozyme, fibrinogen, or apolipoprotein. The symptoms of renal amyloidosis develop when abnormal protein stores grow and begin to disrupt kidney function. One of the most common symptoms is the presence of slightly enlarged kidneys and very high amounts of protein in the urine. This protein is present because affected kidneys are unable to filter proteins from wastewater.
Renal amyloidosis is usually a systemic disease, so these symptoms are accompanied by symptoms related to abnormal function of other organs. These could include liver disease and enlargement, heart failure, nerve disease, enlarged thyroid gland, and problems with the gastrointestinal tract. Systemic amyloidosis is often a fatal disease due to multiple organ involvement, but disease progression and available treatments can vary depending on the protein abnormality involved. For example, when the abnormal protein is made in the liver, disease progression can sometimes be halted with a successful liver transplant.
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