Die renale tubuläre Azidose mit Arthrogrypose ist eine autosomal rezessive Erkrankung bedingt mit proximalem Tubulusschaden und einer Fehlstellung der Gelenke.
| Fehlstellung | |
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Für das ARC-Syndroms ist die Arthrogrypose pathognomonisch. |
| Proximaler Tubulusschaden | |
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Die renale tubuläre Azidose im Rahmen des ARC-Syndroms ist durch das Fanconi-Syndrom bedingt und damit proximal. |
| Proteinurie | |
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Die glomeruläre Proteinurie beim ARC-Syndrom deutet auf eine zusätzliche glomeruläre zu der pathognomonischen tubulären Schädigung. |
| 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. |
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.
|
| 5. |
Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
|
| 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.
|