Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.

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3.

OMIM.ORG article

Omim 613388 [^]
Update: April 29, 2019