Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Familiäres Mittelmeerfieber
Muckle-Wells-Syndrom
Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ
Zerebroarterielle Amyloidose

Referenzen:

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.

Davison AM et al. (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.

et al. (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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