Renal tubular acidosis with arthrogryposis is an autosomal recessive disorder with proximal tubular damage and defective position of joints.
Malposition | |
With the ARC syndrome an arthrogryposis is pathognomonic. |
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Proximal tubular damage syndrome | |
Renal tubular acidosis in ARC syndrome is part of the Fanconi syndrom and therefore proximal. |
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Proteinuria | |
Proteinuria pattern in ARC syndrome indicates glomerular in addition to the pathognomonic tubular damage. |
1. |
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