Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal tubular acidosis with arthrogryposis

Renal tubular acidosis with arthrogryposis is an autosomal recessive disorder with proximal tubular damage and defective position of joints.

Symptoms

Malposition
With the ARC syndrome an arthrogryposis is pathognomonic.
Proximal tubular damage syndrome
Renal tubular acidosis in ARC syndrome is part of the Fanconi syndrom and therefore proximal.
Proteinuria
Proteinuria pattern in ARC syndrome indicates glomerular in addition to the pathognomonic tubular damage.

Systematic

Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
Distal renal tubular acidosis (autosomal dominant)
Distal renal tubular acidosis (autosomal recessive)
Distal renal tubular acidosis with deafness (autosomal recessive)
Proximal renal tubular acidosis
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39

References:

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.

[^]
Update: April 29, 2019