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Disorders of the renal phosphate transporters

Renal phosphate transporters are sodium-coupled transporters located in the apical membrane of proximal tubular cells. They play an important role in phosphate regulation.

Pathogenesis

Under physiological conditions phosphate is filtered in excess, so the body needs to reclaim large amounts of phosphate to keep the body content stable (60-80%). This resorption is accomplished by renal phosphate transporters. Inactivation of those transporters may result in excessive urinary phosphate loss and bone destruction ensue.

Renal phosphate transporters are located in the proximal tubule. The figure below shows its distribution along the segments. While the transporter SLC34A1 can be found in all three segments the other two are localized in the first two segments only.

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Lokalisation der Phosphattransporter in der Niere

Under physiological conditions theTrasnporter SLC20A2 has no effect on phosphate handling as dysfunction can be easily compensated by the other two transporters. Therefore no mutation with bone or kidney phenotype is known so far. However, it seems plausible that variation in this gene too may contribute to a phenotype caused by mutations in other genes.

Systematic

Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
FGF23-induced hypophosphatemic rickets
Fanconi-type hypophosphatemic rickets
Hypophosphatemic rickets with hyperparathyroidism
Osteoglophonic dysplasia
Raine syndrome
X-linked dominant hypophosphatemic rickets

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Update: Aug. 14, 2020
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