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.

Symptoms

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