Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations

The Na + -dependent phosphate transporter NaPi-IIa (SLC34A1) is mostly expressed in kidney, whereas NaPi-IIb (SLC34A2) has a wider tissue distribution with prominent expression in the lung and small intestine. NaPi-IIa is involved in renal reabsorption of inorganic phosphate (Pi) from urine, and pat...

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Bibliographic Details
Published in:Pflügers Archiv 2019-01, Vol.471 (1), p.137-148
Main Authors: Lederer, Eleanor, Wagner, Carsten A.
Format: Article
Language:English
Subjects:
Alveoli
Animals
Biomedical and Life Sciences
Biomedicine
Calcinosis
Calculi
Cell Biology
Children
Clinical aspects
Fibroblast Growth Factors - genetics
Fibroblast Growth Factors - metabolism
Homeostasis
Human Physiology
Humans
Hypercalcemia
Hypercalciuria
Hypophosphatemia
Inflammatory Bowel Diseases - etiology
Invited Review
Kidney diseases
Kidney Diseases - etiology
Kidney stones
Lung diseases
Molecular Medicine
Mutation
Neoplasms - etiology
Nephrolithiasis
Neurosciences
Parathyroid Hormone - genetics
Parathyroid Hormone - metabolism
Phosphate transporter
Reabsorption
Receptors
Single-nucleotide polymorphism
Small intestine
Sodium-Phosphate Cotransporter Proteins, Type II - genetics
Sodium-Phosphate Cotransporter Proteins, Type II - metabolism
Urine
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Summary:The Na + -dependent phosphate transporter NaPi-IIa (SLC34A1) is mostly expressed in kidney, whereas NaPi-IIb (SLC34A2) has a wider tissue distribution with prominent expression in the lung and small intestine. NaPi-IIa is involved in renal reabsorption of inorganic phosphate (Pi) from urine, and patients with biallelic inactivating mutations in SLC34A1 develop hypophosphatemia, hypercalcemia, hypercalciuria and nephrocalcinosis, and nephrolithiasis in early childhood. Monoallelic mutations are frequent in the general population and may impact on the risk to develop kidney stones in adulthood. SNPs in close vicinity to the SLC34A1 locus associate with the risk to develop CKD. NaPi-IIb mediates high-affinity transport of Pi from the diet and appears to be mostly important during low Pi availability. Biallelic inactivating SLC34A2 mutations are found in patients with pulmonary alveolar microlithiasis, a lung disease characterized by the deposition of microcrystals. In contrast, no evidence for disturbed systemic Pi homeostasis has been reported in these patients to date. Nevertheless, NaPi-IIb-mediated intestinal Pi absorption may be a target for pharmaceutical interventions in patients with chronic kidney disease and Pi overload.
ISSN:0031-6768
1432-2013
DOI:10.1007/s00424-018-2246-5