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

Autor: Eleanor D. Lederer, Carsten A. Wagner
Přispěvatelé: University of Zurich, Lederer, Eleanor
Rok vydání: 2018
Předmět:
0301 basic medicine
medicine.medical_specialty
Physiology
Clinical Biochemistry
Population
610 Medicine & health
1308 Clinical Biochemistry
10052 Institute of Physiology
03 medical and health sciences
Hyperphosphatemia
Sodium-Phosphate Cotransporter Proteins
Type II
2737 Physiology (medical)
0302 clinical medicine
Neoplasms
Physiology (medical)
Internal medicine
medicine
Animals
Humans
Hypercalciuria
education
education.field_of_study
Kidney
business.industry
1314 Physiology
Inflammatory Bowel Diseases
medicine.disease
Fibroblast Growth Factors
030104 developmental biology
Endocrinology
medicine.anatomical_structure
Parathyroid Hormone
Pulmonary alveolar microlithiasis
Mutation
570 Life sciences
biology
Kidney Diseases
Nephrocalcinosis
business
030217 neurology & neurosurgery
Hypophosphatemia
Kidney disease
Zdroj: Pflügers Archiv - European Journal of Physiology. 471:137-148
ISSN: 1432-2013
0031-6768
Popis: 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.
Databáze: OpenAIRE
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