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.
Renal phosphate wasting is observed along with other symptoms of proximal tubular damage..
Along with other proximal tubular glucosuria is observed.
Along with other proximal tubular aminoaciduria is observed.
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|
|Fanconi renotubular syndrome 3|
Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.[^]
Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.[^]
OMIM.ORG articleOmim 613388 [^]