Laboratory for Molecular Diagnostics
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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.

Hartmann CM et al. (1996) Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).

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2.

Kos CH et al. (1996) Comparative mapping of Na+-phosphate cotransporter genes, NPT1 and NPT2, in human and rabbit.

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3.

Gong B et al. (2015) Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

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Update: Aug. 14, 2020
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