Overview
What is the typical disease progression of familial renal amyloidosis (FRA)?
How is familial renal amyloidosis (FRA) inherited?
At what age does the clinical onset of familial renal amyloidosis (FRA) typically occur?
How is familial renal amyloidosis (FRA) diagnosed?
How is the risk of acute kidney injury reduced in patients with familial renal amyloidosis (FRA)?
What are the treatment options for familial renal amyloidosis (FRA)?
What is familial renal amyloidosis (FRA)?
What is the pathophysiology of familial renal amyloidosis (FRA)?
What is the prevalence of familial renal amyloidosis (FRA)?
What is the mortality and morbidity associated with familial renal amyloidosis (FRA)?
What are the racial predilections of familial renal amyloidosis (FRA)?
What are the sexual predilections of familial renal amyloidosis (FRA)?
At what age does familial renal amyloidosis (FRA) typically first present?
Presentation
Which clinical history findings are characteristic of familial renal amyloidosis (FRA)?
Which physical findings are characteristic of familial renal amyloidosis (FRA)?
What is the role of fibrinogen in the etiology of familial renal amyloidosis (FRA)?
What causes familial renal amyloidosis (FRA)?
What is the role of lysozyme in the etiology of familial renal amyloidosis (FRA)?
What is the role of apolipoprotein AI in the etiology of familial renal amyloidosis (FRA)?
What is the role of apolipoprotein AII in the etiology of familial renal amyloidosis (FRA)?
DDX
What are the differential diagnoses for Familial Renal Amyloidosis?
Workup
What is the role of lab tests in the workup of familial renal amyloidosis (FRA)?
What is the role of liver function tests in the workup of familial renal amyloidosis (FRA)?
What is the role of imaging in the workup of familial renal amyloidosis (FRA)?
What is the role of scintigraphy in the workup of familial renal amyloidosis (FRA)?
What is the role of echocardiography in the workup of familial renal amyloidosis (FRA)?
What is the role of DNA analysis in the workup of familial renal amyloidosis (FRA)?
What is the role of fibril protein sequencing in the workup of familial renal amyloidosis (FRA)?
What is the role of biopsy in the workup of familial renal amyloidosis (FRA)?
Which histologic findings are characteristic of familial renal amyloidosis (FRA)?
Treatment
How is familial renal amyloidosis (FRA) treated?
What is the role of surgery in the treatment of familial renal amyloidosis (FRA)?
What is the role of kidney transplantation in the treatment of familial renal amyloidosis (FRA)?
What is the role of liver transplantation in the treatment of familial renal amyloidosis (FRA)?
What is the role of heart transplantation in the treatment of familial renal amyloidosis (FRA)?
Which specialist consultations are beneficial to patients with familial renal amyloidosis (FRA)?
Medications
What is the role of medications in the treatment of familial renal amyloidosis (FRA)?
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Familial renal amyloidosis. Proposed mechanism for amyloid fibril formation. The drawing depicts a generic amyloid fibril precursor protein (1) in equilibrium with a partially unfolded, molten, globulelike form of the protein (2) and its completely denatured state (3). Autoaggregation through the beta domains initiates fibril formation (4), providing a template for ongoing deposition of precursor proteins and for the development of the stable, mainly beta-sheet, core structure of the fibril (5). The amyloidogenic precursor proteins in patients with familial renal amyloidosis are thought to be less stable than their wild-type counterparts, causing them to populate intermediate, molten, globulelike states more readily.
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Familial renal amyloidosis. An extended kindred with hereditary amyloidosis associated with fibrinogen A alpha-chain Glu526Val; disease penetrance is high in this particular family.
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Familial renal amyloidosis. Partial DNA sequence of the gene associated with fibrinogen A alpha-chain Glu526Val in a patient with familial renal amyloidosis, and a sequence from a healthy control. The mutation, which alters codon 526 from glutamic acid to valine, is marked with an arrow.
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Familial renal amyloidosis. Progression of amyloid deposits in a patient with amyloidosis associated with fibrinogen A alpha-chain Glu526Val. These serial posterior, whole-body, scintigraphic images were obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a 48-year-old man with hereditary amyloidosis associated with fibrinogen A alpha-chain Glu526Val in whom asymptomatic proteinuria had been identified. Both parents were alive and well and older than age 80 years. The scan at diagnosis (left) showed modest abnormal uptake into renal amyloid deposits, which increased at follow-up 3 years later (right). The remainder of the image represents a normal distribution of tracer throughout the blood pool.
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Familial renal amyloidosis. Regression of amyloidosis associated with fibrinogen A alpha-chain Glu526Val following hepatorenal transplantation. The pictures are serial anterior, whole-body, scintigraphic images obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a patient with amyloidosis associated with fibrinogen A alpha-chain Glu526Val. Prior to hepatorenal transplantation (left), heavy amyloid deposition was present in an enlarged liver and spleen. No amyloid deposits were identified in a follow-up study obtained 42 months after hepatorenal transplantation (right); only a normal distribution of tracer is present throughout the blood pool.
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Familial renal amyloidosis. Regression of amyloidosis associated with apolipoprotein AI Gly26Arg following hepatorenal transplantation. These serial anterior, whole-body, scintigraphic images were obtained following intravenous injection of iodine-123 (123I)–labeled human serum amyloid P component into a patient with hereditary amyloidosis associated with apolipoprotein AI Gly26Arg. Prior to hepatorenal transplantation (left), heavy amyloid deposition was present in the liver, obscuring the kidneys. Two years after combined hepatorenal transplantation (right), a follow-up scan was normal, showing tracer distributed evenly throughout the background blood pool, including the transplanted organs. Splenic amyloid deposits that were evident initially in posterior scans had regressed at follow-up.