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 | |
 |
Renal phosphate wasting is observed along with other symptoms of proximal tubular damage.. |
| Glucosuria | |
|
Along with other proximal tubular glucosuria is observed. |
| Aminoaciduria | |
|
Along with other proximal tubular aminoaciduria is observed. |
| Hypercalciuria | |
|
Along with other proximal tubular damage renal calcium wastage is observed. |
Systematic
Fanconi renotubular syndrome
|
||||
|
Autosomal dominant idiopathic Fanconi syndrome
|
|||
|
|
Fanconi renotubular syndrome 1
|
|||
|
Fanconi renotubular syndrome 2
|
|||
|
|
SLC34A1
|
||
|
|
Fanconi renotubular syndrome 3
|
|||
|
|
|
|
|
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. [^] |
| 3. |
OMIM.ORG article Omim 613388 [^] |
Update: April 29, 2019
