Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ARC-Syndrom 1

Das ARC-Syndrom 1 ist eine autosomal rezessive Erkrankung. Sie ist charakterisiert durch Arthrogryposis (Versteifung eines Gelenkes in Beugestellung), eine renalen Dysfunktion (meist eine metabolische Azidose) und einer Cholestase. Mutationen des VPS33B-Gens sind die Ursache.

Epidemiologie

Die Prävalenz ist bisher noch nicht bekannt. Etwa 100 Fälle sind bisher publiziert.

Gliederung

Renale tubuläre Azidose mit Arthrogrypose
ARC-Syndrom 1
VPS33B
ARC-Syndrom 2

Referenzen:

1.

Gissen P et. al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

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2.

Gissen P et. al. (2006) Clinical and molecular genetic features of ARC syndrome.

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3.

Taha D et. al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

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4.

Horslen SP et. al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

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5.

Abu-Sa'da O et. al. (2005) Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

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6.

None (2007) Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations.

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7.

Saraiva JM et. al. (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant.

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8.

Di Rocco M et. al. (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

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9.

Mikati MA et. al. (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

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10.

Nezelof C et al. (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.

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11.

Di Rocco M et. al. (1995) Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

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