Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C9-Mangel

Complementfaktor 9-Mangel ist eine Erkrankung, die durch Mutationen des C9-Gens hervorgerufen wird. Sind beide Allele betroffen kommt es zu einem völligen Fehlen des C9 im Plasma. Besondere Krankheitsanfälligkeiten sind für diesen Zustand nicht beobachtet worden. Bei paroxysmaler nächtlicher Hämoglobinurie scheint ein solcher Mangel sogar die Krankheit abzumildern.

Epidemiologie

Der C9-Mangel hat in Japan eine Häufigkeit von etwa 2/1000.[1]

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Ichikawa E et al. (2001) Hereditary complement (C9) deficiency associated with dermatomyositis.

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2.

Zoppi M et al. (1990) Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe.

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3.

Abbott C et al. (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.

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4.

Witzel-Schlömp K et al. (1997) The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.

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5.

Hobart MJ et al. (1997) Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.

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6.

Horiuchi T et al. (1998) A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.

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7.

Witzel-Schlömp K et al. (1998) Heterogeneity in the genetic basis of human complement C9 deficiency.

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8.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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9.

Fukumori Y et. al. (1998) Terminal complement component deficiencies in Japan.

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10.

Kira R et al. (1999) Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan.

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11.

Yonemura Y et al. (1990) Paroxysmal nocturnal haemoglobinuria with coexisting deficiency of the ninth component of complement: lack of massive haemolytic attack.

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12.

Nagata M et al. (1989) Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis.

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13.

Lint TF et al. (1980) Inherited deficiency of the ninth component of complement in man.

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