Renotubular Fanconi syndrome 2 is an autosomal recessive disorder caused by mutations of the SLC34A1 gene. It characterized clinically by phosphaturia, glycosuria, and aminoaciduria.
Hyperphosphaturia | |
Renal phosphate wasting is observed along with other symptoms of proximal tubular damage.. |
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Glucosuria | |
Along with other proximal tubular glucosuria is observed. |
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Aminoaciduria | |
Along with other proximal tubular aminoaciduria is observed. |
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Hypercalciuria | |
Along with other proximal tubular damage renal calcium wastage is observed. |
Fanconi renotubular syndrome | ||||
Autosomal dominant idiopathic Fanconi syndrome | ||||
Fanconi renotubular syndrome 1 | ||||
Fanconi renotubular syndrome 2 | ||||
SLC34A1 | ||||
Fanconi renotubular syndrome 3 | ||||
1. |
Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. |
2. |
Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome. |
3. |
OMIM.ORG article Omim 613388 |