Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Nierenamyloidose

Die familiäre viszerale Amyloidose ist eine autosomal dominante Erkrankung die durch Ablagerungen von Amyloid in verschiedenen inneren Organen gekennzeichnet ist. Abhängig vom Ausmaß dieser Ablagerungen kommt es zu einem zunehmenden Organversagen. Verschiedene Gene sind identifiziert worden, in denen Mutationen eine solche Erkrankung hervorrufen können.

Gliederung

Hereditäre Amyloidose
ATTR-Amyloidose
Amyloidose vom Finnischen Typ
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
Familiäres Mittelmeerfieber
Nierenamyloidose
APOA1
Apolipoprotine A2-Amyloidose
APOA2
B2M
CST3
FGA
LYZ
Zerebroarterielle Amyloidose

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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

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19.

Orphanet article

Orphanet ID 85443 external link
20.

OMIM.ORG article

Omim 105200 external link
Update: 14. August 2020
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