eMedicine Specialties > Nephrology > The Kidney in Systemic Diseases
Amyloidosis, Familial Renal: Multimedia
Updated: Oct 29, 2009
Multimedia
 | Media file 1: Proposed mechanism for amyloid fibril formation. The drawing depicts a generic amyloid fibril precursor protein (I) in equilibrium with a partially unfolded, molten, globulelike form of the protein (II) and its completely denatured state (III). Autoaggregation through the beta domains initiates fibril formation (IV), providing a template for ongoing deposition of precursor proteins and for the development of the stable, mainly beta-sheet, core structure of the fibril. 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. |
 | Media file 2: An extended kindred with hereditary amyloidosis associated with fibrinogen A alpha-chain Glu526Val; disease penetrance is high in this particular family. |
 | Media file 3: 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. |
 | Media file 4: 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. |
 | Media file 5: 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. |
 | Media file 6: 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. |
More on Amyloidosis, Familial Renal |
| Overview: Amyloidosis, Familial Renal |
| Differential Diagnoses & Workup: Amyloidosis, Familial Renal |
| Treatment & Medication: Amyloidosis, Familial Renal |
| Follow-up: Amyloidosis, Familial Renal |
 Multimedia: Amyloidosis, Familial Renal |
| References |
| Further Reading |
| « Previous Page |
References
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Further Reading
Clinical trials:
Open-Label Safety and Efficacy Evaluation of Fx-1006A in Patients With Transthyretin Amyloidosis
Radioimmunoimaging of AL Amyloidosis
Study of Systemic Amyloidosis Presentation and Prognosis
The Effect of Diflunisal on Familial Amyloidosis
Transthyretin-Associated Amyloidoses Outcomes Survey (THAOS)
Keywords
familial renal amyloidosis, amyloidosis, amyloid, familial amyloidosis, amyloidosis cardiac, amyloidosis disease, familial systemic amyloidosis, hereditary nonneuropathic amyloidosis, hereditary systemic amyloidosis, hereditary renal amyloidosis, Ostertag-type amyloidosis, apolipoprotein A-I amyloidosis, lysozyme amyloidosis, fibrinogen A alpha-chain amyloidosis
