Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Renale tubuläre Azidose mit Arthrogrypose

Die renale tubuläre Azidose mit Arthrogrypose ist eine autosomal rezessive Erkrankung bedingt mit proximalem Tubulusschaden und einer Fehlstellung der Gelenke.

Symptome

Fehlstellung
Für das ARC-Syndroms ist die Arthrogrypose pathognomonisch.
Proximaler Tubulusschaden
Die renale tubuläre Azidose im Rahmen des ARC-Syndroms ist durch das Fanconi-Syndrom bedingt und damit proximal.
Proteinurie
Die glomeruläre Proteinurie beim ARC-Syndrom deutet auf eine zusätzliche glomeruläre zu der pathognomonischen tubulären Schädigung.

Gliederung

Renale tubuläre Azidose
Distale renale tubuläre Azidose (autosomal dominant)
Distale renale tubuläre Azidose (autosomal rezessiv)
Distale renale tubuläre Azidose mit Schwerhörigkeit (autosomal rezessiv)
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3
Proximale renale tubuläre Azidose
Renale tubuläre Azidose mit Arthrogrypose
ARC-Syndrom 1
VPS33B
ARC-Syndrom 2
VIPAS39

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.

[^]
2.

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

[^]
3.

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

[^]
4.

Cullinane AR et. al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

[^]
5.

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.

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

Smith H et. al. (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

[^]
13.

Zhou Y et. al. (2014) Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

[^]
14.

Holme A et. al. (2013) Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

[^]