Fanconi renotubular syndrome 2
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 | |
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Renal phosphate wasting is observed along with other symptoms of proximal tubular damage.. |
| Glucosuria | |
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Along with other proximal tubular glucosuria is observed. |
| Aminoaciduria | |
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Along with other proximal tubular aminoaciduria is observed. |
| Hypercalciuria | |
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Along with other proximal tubular damage renal calcium wastage is observed. |
Systematic
Fanconi renotubular syndrome
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Autosomal dominant idiopathic Fanconi syndrome
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Fanconi renotubular syndrome 1
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Fanconi renotubular syndrome 2
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SLC34A1
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Fanconi renotubular syndrome 3
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References:
| 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. [^] |
Update: Sept. 26, 2018
