Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations
Autor: | Eleanor D. Lederer, Carsten A. Wagner |
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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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