AUTOSOMAL dominant amyloidoses characterized so far are most commonly associated with transthyretin (TTR), a plasma protein synthesized by the liver. The single gene for TTR is located on human chromosome 18; more than 70 TTR mutations have been documented. The most common type of hereditary amyloidosis is familial amyloid polyneuropathy type I (FAP, Portuguese type), a neuropathic form associa...

BACKGROUND Cardiac amyloidosis is characterized by amyloid infiltration resulting in extracellular matrix disruption. Amyloid cardiomyopathy due to immunoglobulin light chain protein (AL-CMP) deposition has an accelerated clinical course and a worse prognosis compared with non-light chain cardiac amyloidoses (ie, forms associated with wild-type or mutated transthyretin [TTR]). We therefore test...

blood pressure was 130/90 mmHg, heart rate 70 beats/min and a body temperature of 37.2°C. Physical examination revealed mild abdominal distension and decreased bowel sound without any peritoneal irrita

Transthyretin amyloidosis is a conformational pathology characterized by the extracellular formation of amyloid deposits and the progressive impairment of the peripheral nervous system. Point mutations in this tetrameric plasma protein decrease its stability and are linked to disease onset and progression. Since non-mutated transthyretin also forms amyloid in systemic senile amyloidosis and som...

Patients who have renal failure and are on dialysis therapy experience serious complications caused by low-molecular-weight uremic toxin proteins normally filtered by glomeruli and metabolized by proximal tubule cells (PTC). Dialysis-related amyloidosis is one such complication induced by systemic deposition of amyloid proteins derived from 12-kD beta(2)-microglobulin (beta(2)-m). Despite the u...

Dialysis-related amyloidosis (DRA) is a common complication associated with long-term haemodialysis therapy. The elimination of beta2-microglobulin (beta2m), the major constituent of the amyloid fibrils in DRA, from circulation has been expected to bring some clinical benefit. Recently, a direct haemoperfusion method using selective beta2m absorption column to eliminate circulating beta2m has b...

Case. A 59-year-old woman was maintained on peritoneal dialysis for end-stage renal failure due to primary amyloidosis complicated by acute crescentic glomerulonephritis. She had suffered no previous complications related to peritoneal dialysis. She had a minor fall down two stairs and attended the casualty department on the following day with right hip pain. Her peritoneal dialysis fluid was c...

amyloidosis is characterized by an abnormal extracellular deposition of amyloid in different organs, where it usually causes some type of dysfunction. its cause is unknown. five different types of amyloidosis have been described according to the underlying disease; immunoglobulin amyloidosis, familial amyloidosis, senile systemic amyloidosis, secondary amyloidosis and hemodialysis-associated am...