Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary renal amyloidosis

Familial visceral amyloidosis is an autosomal dominant disease caused by mutations in various genes. The clinical picture is characterized by progressive failure of visceral organs in which the abnormal protein, amyloid, accumulates.

Systematic

Hereditary amyloidosis
ATTR amyloidosis
Amyloidosis, cerebroarterial
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Finnish type Amyloidosis
Hereditary renal amyloidosis
APOA1
Apolipoprotein A-2 amyloidosis
APOA2
B2M
CST3
FGA
LYZ

References:

1.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

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2.

Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

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3.

None (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.

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4.

Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

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5.

Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen.

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6.

Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

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7.

Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

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8.

Granel B et al. (2005) Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

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9.

Zalin AM et al. (1991) Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

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10.

Pepys MB et al. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis.

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11.

Alexander F et al. (1975) Familial renal amyloidosis. Case reports, literature review and classification.

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12.

Vella FS et al. (2002) Glaucoma in primary amyloidosis: a fortuitous or causative association?

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13.

Bodin K et al. (2010) Antibodies to human serum amyloid P component eliminate visceral amyloid deposits.

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14.

None (1987) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 50-1987. A 43-year-old woman with hepatic failure after renal transplantation because of amyloidosis.

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15.

Weiss SW et al. (1973) Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells.

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16.

Lanham JG et al. (1982) Familial amyloidosis of Ostertag.

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17.

Mornaghi R et al. (1982) Familial renal amyloidosis: case reports and genetic studies.

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18.

Mornaghi R et al. (1981) Studies on the pathogenesis of a familial form of renal amyloidosis.

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19.

Orphanet article

Orphanet ID 85443 [^]
20.

OMIM.ORG article

Omim 105200 [^]
21.

Wikipedia article

Wikipedia EN (Familial_renal_amyloidosis) [^]
Update: April 29, 2019