[Familial amyloidosis].
Familial amyloidosis is characterized by its great clinical and genetic heterogeneity. The most frequent form is amyloidotic neuropathy which may be due to deposits of several amyloid proteins, such as transthyretin, apolipoprotein A1 and gelsolin. Other varieties include predominant lesions of another organ, such as kidney, heart, eye or skin. In most of these lesions, a punctual mutation affects the amyloid protein itself. In other varieties, the amyloid protein is not affected by mutation and, rarely, unknown. The advances achieved in our understanding of transthyretin deposition should improve our knowledge of amyloidosis in general.
Grateau
G
G
Département de Médecine interne, Hôpital Cochin, Paris.
Roux
M E
ME
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D009202:Cardiomyopathies / Q000235:genetics* / Q000378:metabolism; D005128:Eye Diseases / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009422:Nervous System Diseases / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D011228:Prealbumin / Q000235:genetics / Q000378:metabolism; D000685:Serum Amyloid A Protein / Q000235:genetics / Q000378:metabolism; D012871:Skin Diseases / Q000235:genetics / Q000378:metabolism
D011228:Prealbumin; D000685:Serum Amyloid A Protein
Amyloses familiales.