Renal phosphate handling and inherited disorders of phosphate reabsorption: an update

CA Wagner, I Rubio-Aliaga, N Hernando - Pediatric Nephrology, 2019 - Springer
Renal phosphate handling critically determines plasma phosphate and whole body
phosphate levels. Filtered phosphate is mostly reabsorbed by Na+-dependent phosphate …

Genetic diseases of renal phosphate handling

CA Wagner, I Rubio-Aliaga, J Biber… - Nephrology Dialysis …, 2014 - academic.oup.com
Renal control of systemic phosphate homeostasis is critical as evident from inborn and
acquired diseases causing renal phosphate wasting. At least three transport proteins are …

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

E Lederer, CA Wagner - Pflügers Archiv-European Journal of Physiology, 2019 - Springer
The Na+-dependent phosphate transporter NaPi-IIa (SLC34A1) is mostly expressed in
kidney, whereas NaPi-IIb (SLC34A2) has a wider tissue distribution with prominent …

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

R Schönauer, F Petzold, W Lucinescu, A Seidel… - Urolithiasis, 2019 - Springer
Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal
phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria …

Genetic disorders of phosphate regulation

J Gattineni, M Baum - Pediatric nephrology, 2012 - Springer
Regulation of phosphate homeostasis is critical for many biological processes, and both
hypophosphatemia and hyperphosphatemia can have adverse clinical consequences. Only …

[PDF][PDF] Kidney and phosphate metabolism

NW Choi - Electrolyte & Blood Pressure, 2008 - synapse.koreamed.org
The serum phosphorus level is maintained through a complex interplay between intestinal
absorption, exchange intracellular and bone storage pools, and renal tubular reabsorption …

Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice

K Myakala, S Motta, H Murer… - American Journal …, 2014 - journals.physiology.org
The proximal renal epithelia express three different Na-dependent inorganic phosphate (Pi)
cotransporters: NaPi-IIa/SLC34A1, NaPi-IIc/SLC34A3, and PiT2/SLC20A2. Constitutive …

Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies

KI Miyamoto, S Haito-Sugino, S Kuwahara… - Journal of …, 2011 - Elsevier
Inorganic phosphate (Pi) is an essential physiological compound, highlighted by the
syndromes caused by hypo or hyperphosphatemic states. Hyperphosphatemia is associated …

New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter

K Miyamoto, M Ito, S Tatsumi, M Kuwahata… - American journal of …, 2007 - karger.com
Abnormalities of the inorganic phosphate (Pi) reabsorption in the kidney result in various
metabolic disorders. Na+-dependent Pi (Na/Pi) transporters in the brush border membrane …

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important …

G Jaureguiberry, TO Carpenter… - American Journal …, 2008 - journals.physiology.org
The present study describes two novel compound heterozygous mutations, c. 410C> T (p.
T137M)(T137M) on the maternal and g. 4225_50del on the paternal allele of SLC34A3, in a …